Category Archives: Genetic medicine

A University of Iowa professor has received a grant for a project that looks at how scores measuring genetic influence on behaviors areutilized.

Anya Prince, a professor of law and faculty member of the UI Genetics Cluster Initiative, was awarded a four-year grantit totals $2.7 million, with more than $485,000 awarded to the UIfrom the National Human Genome Research Institute at the National Institutes of Health. The co-principal investigator is Jean Cadigan, associate professor of social medicine at the University of North Carolina, ChapelHill.

The project will focus on the increasing development of sociogenomic polygenic scores (PGS) that may predict complex behaviors and traits. The development of these scores has the promise to improve genetic and social science research, but it can also exacerbate social inequities and disparities if not implemented carefully. Prince, Cadigan, and a research team from across the country will examine how the scores are being utilized and ascertain the ethical, legal, and social effects of theiruse.

With an exploration of diverse viewpoints on the potential harms and benefits of sociogenomic PGS and assessment of the legal protections and barriers for implementation, this project seeks to better understand the ethical and social impacts of this new technology, Princesays.

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UI professor receives grant from National Institutes of Health - Iowa Now

Imagine a patient with a rare genetic disorder that makes their arms and legs have imprecise and slow movements. For years, the patient has faced serious restrictions in day-to-day life. They tried several treatments, but all have failed to ease the symptoms.

Now imagine a university team discovering a therapy that could tackle this condition, with a solution that lies in the patients own body. The patients blood would be collected, some key cells would be separated in a laboratory, gene-editing techniques would be applied, and personalised medicine, produced with specialised equipment, would be injected back into the patients body.

A biological process would then be triggered in which all faulty genes would be corrected, reducing the diseases severity, perhaps correcting it all together. The modification would be restricted to the patient and would not be passed on to their children, since it would not affect reproductive cells.

Our story has a catch, though: the blood cells needed for the personalised medicine are very fragile and do not live very long outside the human body. This means theres little time to take the blood to the specialised laboratory, transport the cells to the production facility, and take the medicine back to the hospital where the patient is.

But what if all these production steps were quickly performed in the same place that is, in the hospital?

Read more: The human body has 37 trillion cells. If we can work out what they all do, the results could revolutionise healthcare

Our story is ceasing to be just imagination because this way of producing medicines in the hospital is actually emerging. Its what specialists call point-of-care manufacture. And there are several notable examples of it already in use.

For instance, a medicine for multiple myeloma (a type of bone marrow cancer) is being produced in the Hospital Clinic in Barcelona, Spain. Products for severe burns are being manufactured in Lausanne University Hospital in Switzerland.

At the University of Colorado in the US, researchers are developing a therapy for hard-to-treat lymphoma, a type of blood cancer. In the UK, an NHS Blood and Transplant laboratory is investigating the manufacture of red blood cells which, if successful, could be carried out in hospitals and other clinical settings for the treatment of cardiac diseases.

These illnesses might not have been treated if the medicines had needed to be frozen and transported over long distances, instead of being made in the hospital.

Given that these therapies have such a short shelf life and will need to be produced at the patients bedside, there are many things we need to consider before we can deploy them on a wider scale. For example, what measures should hospitals, companies, and regulators take to adopt this model and make it work? This is what our research team has been investigating.

Its vital that the same safe and high-quality production methods are used in different hospitals so that all patients receive the best possible care. This is why regulatory agencies in the UK are already proposing new ways of managing this model.

For example, it has been suggested that to begin with, manufacturers could oversee the medicines production in several different hospitals from a central site. They could also be responsible for providing training and quality control in the hospitals that have rolled out point-of-care manufacture to ensure that the products are safe and high-quality.

But just because a new policy has been made, doesnt mean it will be successfully implemented. This will mean hospitals and companies will need to change how they operate for these new technologies to be implemented safely and efficiently.

Our research, in collaboration with the Medicines and Healthcare Products Regulatory Agency (MHRA) and several public and private sector organisations has also looked at what benefits and challenges there may be in implementing this innovative approach to the production of medicines.

In a recent publication, we put forward several steps that need to be taken by regulators, hospital staff, and companies to make the production of personalised therapies in hospitals a reality. First, trusts, clinical centres and hospital staff will need to investigate how best to make therapy production happen in medical wards. They will also need to identify any issues such as staff training and data management which may stop this from happening.

Companies already developing these advanced treatments can also supply hospitals with manufacturing equipment and production system know-how, making it easier to start developing personalised therapies in hospitals with as little disruption to day-to-day operations as possible. Regulators may need to provide guidance for different therapies to ensure quality control and patient safety.

Now, let us return to our patients story. After receiving the therapy produced in the hospital, the patient goes on to live a healthy life and have a child that is diagnosed with the same genetic condition. But now, the way to receive treatment is much clearer.

The child will be treated in a specialised hospital where certified equipment and trained staff are available for producing and delivering an enhanced version of the personalised therapy. With more experience and better infrastructure in place, the child will receive a treatment that yields faster outcomes with fewer side effects.

But this will only be possible if everyone including hospital staff, manufacturers, scientists and policymakers work together to ensure point-of-care manufacture is successfully rolled out.

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Personalised medicine made in hospitals can revolutionise the way diseases are treated the challenge now will be implementing it - The Conversation...

Antiviral drugs like remdesivir, molnupiravir and Paxlovid have undoubtedly saved lives and reduced the suffering wrought by covid-19 since they began rolling out in fall of 2020.

But theyre far from perfect, as President Joe Bidens recent experience shows. After treatment with Paxlovid, his covid infection rebounded, though his symptoms were mild.

With the pandemic showing no signs of slowing, the hunt for the next generation of covid treatments is speeding up. Pfizer and Merck the makers of Paxlovid and molnupiravir, respectively already have potential drug candidates that work better, or are easier to take, in their development pipelines. And many smaller biotech companies are also entering the race. They include Enanta Pharmaceuticals, which earlier this month reported a successful Phase I clinical trial of its experimental covid drug. Meanwhile, the Biden administration said in June that it planned to spend more than $3 billion to accelerate the search for better covid antiviral drugs.

I think the technical word to describe [the current covid] drugs would be suboptimal, said Luis Schang, a virologist at Cornell University. The drugs, all of which stem from antivirals developed before SARS-CoV-2 existed, have been a first good stab at beating back the virus in the body, he said, but they all have limitations.

But in the history of antiviral drugs, less-than-perfect initial stabs are the norm, experts said, drawing parallels with efforts to develop effective treatments for conditions like HIV and hepatitis C.

The first drug that we used against HIV, to be quite honest, was miserable, Schang said. AZT, first approved in 1987, caused serious side effects, and its effectiveness wore off quickly sometimes in just days as the virus evolved resistance. It took nearly a decade of research for scientists to develop a breakthrough triple-drug therapy in 1996 that combined several antiviral drugs to combat resistance. But the regimes involved complicated dosing and serious side effects that hampered their use. Now, there are more than 30 antiviral drugs for HIV, and its possible to treat the condition with just one pill a day.

Those first-generation drugs were better than nothing, but it took years of research to find better options. As the second-, third- and fourth-generation drugs were developed, the drugs got more potent, had less side effects and can be given less often, said Sara Cherry, an immunologist at the Perelman School of Medicine at the University of Pennsylvania. It really speaks to the fact that every development of a new drug can help mitigate all the things about the first generation that were imperfect.

From the earliest days of the pandemic, researchers and pharmaceutical companies have suspected that the first covid drugs to market wouldnt end up being the final word on treating the disease.

When clinical trial data showed remdesivir to be the first effective coronavirus drug, Anthony Fauci, Bidens medical adviser and leader of the National Institute of Allergy and Infectious Disease since 1984, cautioned that this was just the beginning, reflecting on his involvement in early HIV drug research. That was not the end game, because building on that every year after we did better and better, we had better drugs of the same type, and we had drugs against different targets, Fauci said.

The second-generation covid antivirals closest to approval will likely target similar aspects of the coronavirus as existing drugs, but better. Pfizer is reportedly working on an improved version of Paxlovid that would make it less problematic for people taking other medications, and the Japanese company Shionogi developed a once-a-day drug that works similarly to Paxlovid (which must be taken multiple times a day), that could be approved within months. An infusion of research money into a long-neglected field is fueling experimentation, with many labs developing new ways of stopping SARS-CoV-2, some of which might work against many other viruses.

In the future, I think that were going to have more drugs against similar targets, were going to have drugs against new targets. And hopefully, well have combinations in the future that will really slam the virus, Cherry said.

Viruses are little more than tangled strands of genetic material (RNA, in SARS-CoV-2s case) enclosed in a protein shell. They dont have the ability to reproduce on their own and instead hijack the machinery of their hosts to copy themselves.

Antiviral drugs are designed to gum up this process. Viruses that arent reproducing dont cause acute disease, typically, said Jeffrey Glenn, a gastroenterologist and molecular virologist at Stanford University. So, we want to interfere with their ability to reproduce themselves.

Most existing antiviral drugs, for any disease, aim to disrupt something about the virus itself. Many target viral polymerases, the proteins viruses use to make copies of their genetic material once they infect a host. Remdesivir, for instance, mimics the coronavirus genetic material, halting replication. Another common target is viral proteases, enzymes a virus needs to make proteins that make more viruses. The active ingredient in Paxlovid, which consists of two medications, inhibits a key enzyme needed to produce this replication machinery. The other ingredient slows the bodys metabolism of the active ingredient, helping it work longer.

In cell culture, these all work quite well to block viral infection, said Cherry. But when you move into an organism, theres a lot more complications, she said. Our bodies might break down a drug too quickly for it to clear enough virus, or the drug may not reach peak concentration in the lung or respiratory tract, where viral replication is happening. With potentially billions of viral particles to counter, getting this concentration right really matters, Cherry said, and can take time to perfect.

Imperfect single antivirals can also foster the evolution of drug-resistant strains of a virus. By knocking down susceptible strains in an infected individual, the antiviral can give resistant strains a leg up, allowing them to flourish within that individual and spread. The single drugs initially used for HIV evolved resistance generally quickly, said Matthew Frieman, a coronavirus researcher at the University of Maryland. It wasnt until they started combining two and three and four drugs together, these drug cocktails, that scientists learned this worked much more efficiently.

Combining multiple antiviral drugs makes it much harder for a virus to evolve resistance, since its being hit from many different angles at different stages of the replication cycle, Frieman said. The strategy is often simply more effective, too. By hitting it at multiple steps in life cycle, you can really enhance the effects of any one of these drugs individually, he said. You can also generally use less of each drug, which can reduce side effects.

Identifying drugs that might work together is one crucial step, and scientists have already begun testing different combinations in the lab. The other part is combining together drugs developed by different companies, Frieman said. It becomes an issue of money and patent rights, which can be difficult. Altogether, the process of developing combination therapy can take many years, he said.

There are currently no trials underway testing Paxlovid with other drugs, and some experts worry that combining molnupiravir, which works by introducing mutations into SARS-CoV-2s genetic material, could breed resistant strains. Consequently, more antiviral drugs may need to get developed before combination therapies come online. Thankfully, scientists are looking for new targets at an unprecedented scale in antiviral research.

Most antiviral drugs, for any condition, target two key factors of viral replication, polymerases and proteases. I expect the next generation [of covid antivirals] will come from optimized protease and polymerase inhibitors, said Schang. Some versions, which are easier to take and have fewer drug interactions, might be approved within months. But many scientists are starting to think beyond these targets.

Antiviral therapies are heavily biased toward protease inhibitors and polymerase inhibitors, said Schang, and thats resulted in a relative scarcity of chemical scaffolds that are known to have antiviral activity. Thats a major limitation moving forward. We have to have more chemical diversity.

There are many ways to throw a wrench in viral replication. For example, before a virus can replicate, its viral RNA must be unwound by enzymes called helicases. There are lots of programs trying to develop helicase inhibitors against SARS-CoV-2, Cherry said. Other scientists are working on ways of creating chinks into the coronavirus armor, designing antivirals that blow apart the protein shell that encases viral genetic material.

Other researchers are trying to design drugs that deprive viruses the opportunity to usurp our cells, by latching onto parts of human cells that the virus hijacks to invade or blocking access to human cellular components the virus needs to reproduce.

The approach is relatively new, and few drugs use it, but so-called host-directed antivirals could have advantages, said Glenn of Stanford. Since youre targeting something not under the virus control, we predict a high barrier to development of resistance, he said. Such drugs might work against other viruses too. If one virus has evolved to depend on a certain host function, its likely others have too, he said.

Finally, theres a third class of antivirals, called immune modulators, that seek to supercharge how our bodies naturally deal with infection. Interferons are proteins that whir into action at the first sign of an infection, kick-starting the immune response. Peginterferon lambda, a drug developed by Eiger Biopharmaceuticals, has shown exciting results in an early clinical trial. One shot of the drug cut risk of hospitalization by half when administered early in vaccinated patients and by 89 percent when administered early to unvaccinated patients. Glenn, who founded Eiger and sits on its board of directors, said the company plans to request emergency use authorization from the Food and Drug Administration.

Efficacy and ease of use arent the only factors that will shape the next iterations of covid antivirals. To be maximally effective, the drugs need to relatively inexpensive and easy to manufacture and distribute worldwide, Cherry said. Thats actually not so trivial, she said, but is key to ensuring the kind of equitable access that represents the worlds best bet toward controlling the pandemic.

But with unprecedented funding and interest in antivirals, many researchers are optimistic. Not only might the next generations of SARS-CoV-2 antivirals transform the nature of the pandemic, they might bolster our antiviral arsenal such that were better prepared for the next major infectious disease threat. Theres no limit to the creativity and novelty of all these new targets, Frieman said. Which ones work and which ones wont work, I dont know, but I think that the future is really bright for the number of antivirals that will be developed in the next decade.

An earlier version of this article misstated that Eiger Biopharmaceuticals had already requested emergency use authorization. This version has been corrected.

Thanks to Lillian Barkley for copy editing this article.

More:
Beyond Paxlovid for covid-19: The hunt for better covid medications - Grid

Friday, August 12, 2022

A Purdue University chemical engineer has improved upon traditional methods to produce off-the-shelf human immune cells that show strong antitumor activity, according to a paper published in the peer-reviewed journal Cell Reports. And future research plans include clinical trials involving the Purdue University College of Veterinary Medicine.

Dr. Xiaoping Bao, a Purdue University assistant professor in the Davidson School of Chemical Engineering, said CAR-neutrophils, or chimeric antigen receptor neutrophils, and engraftable HSCs, or hematopoietic stem cells, are effective types of therapies for blood diseases and cancer. Neutrophils are the most abundant white cell blood type and effectively cross physiological barriers to infiltrate solid tumors. HSCs are specific progenitor cells that will replenish all blood lineages, including neutrophils, throughout life.

These cells are not readily available for broad clinical or research use because of the difficulty to expand ex vivo to a sufficient number required for infusion after isolation from donors, Dr. Bao said. Primary neutrophils especially are resistant to genetic modification and have a short half-life.

Dr. Bao has developed a patent-pending method to mass-produce CAR-neutrophils from human pluripotent stem cells (hPSCs), that is, cells that self-renew and are able to become any type of human cell. The chimeric antigen receptor constructs were engineered to express on the surface of the hPSCs, which were directed into functional CAR-neutrophils through a novel, chemically defined protocol.

The method was created in collaboration with Dr. Qing Deng in Purdues Department of Biological Sciences; Dr. Hal E. Broxmeyer, now deceased, at the Indiana University School of Medicine; and Dr. Xiaojun Lian at Pennsylvania State University.

We developed a robust protocol for massive production of de novo neutrophils from human pluripotent stem cells, Dr. Bao said. These hPSC-derived neutrophils displayed superior and specific antitumor activities against glioblastoma after engineering with chimeric antigen receptors.

Dr. Bao disclosed the innovation to the Purdue Research Foundation Office of Technology Commercialization, which has applied for an international patent under the Patent Cooperation Treaty system of the World Intellectual Property Organization. The innovation has been optioned to an Indiana-headquartered life sciences company.

We will also work with Dr. Timothy Bentley and his team at the Purdue College of Veterinary Medicine to run clinical trials in pet dogs with spontaneous glioma, Dr. Bao explained. Dr. Bentley is professor of neurology and neurosurgery in the College of Veterinary Medicines Department of Veterinary Clinical Sciences.

This research project was partially supported by the Davidson School of Chemical Engineering and College of Engineering Startup Funds, Purdue Center for Cancer Research, Showalter Research Trust and federal grants from the National Science Foundation and National Institute of General Medical Sciences.

Click here to view a complete news release.

Writer(s): Steve Martin | pvmnews@purdue.edu

Read more:
PVM to Play Role in Research on New Patent-pending Method to Mass-produce Antitumor Cells to Treat Blood Diseases and Cancer - Purdue University

LogicBio Therapeutics (NASDAQ:LOGC Get Rating) and Kiromic BioPharma (NASDAQ:KRBP Get Rating) are both small-cap medical companies, but which is the superior business? We will compare the two businesses based on the strength of their risk, valuation, profitability, analyst recommendations, earnings, institutional ownership and dividends.

This table compares LogicBio Therapeutics and Kiromic BioPharmas net margins, return on equity and return on assets.

This table compares LogicBio Therapeutics and Kiromic BioPharmas top-line revenue, earnings per share (EPS) and valuation.

55.2% of LogicBio Therapeutics shares are owned by institutional investors. Comparatively, 16.0% of Kiromic BioPharma shares are owned by institutional investors. 8.1% of LogicBio Therapeutics shares are owned by insiders. Comparatively, 3.5% of Kiromic BioPharma shares are owned by insiders. Strong institutional ownership is an indication that large money managers, hedge funds and endowments believe a stock will outperform the market over the long term.

LogicBio Therapeutics has a beta of 1.6, indicating that its stock price is 60% more volatile than the S&P 500. Comparatively, Kiromic BioPharma has a beta of -0.27, indicating that its stock price is 127% less volatile than the S&P 500.

This is a summary of recent ratings and recommmendations for LogicBio Therapeutics and Kiromic BioPharma, as provided by MarketBeat.

LogicBio Therapeutics currently has a consensus price target of $10.00, suggesting a potential upside of 1,513.16%. Given LogicBio Therapeutics higher probable upside, research analysts clearly believe LogicBio Therapeutics is more favorable than Kiromic BioPharma.

LogicBio Therapeutics beats Kiromic BioPharma on 7 of the 12 factors compared between the two stocks.

(Get Rating)

LogicBio Therapeutics, Inc., a genetic medicine company, focuses on developing and commercializing genome editing and gene therapy treatments using its GeneRide and sAAVy platforms. The company's GeneRide technology is a new approach to precise gene insertion harnessing a cell's natural deoxyribonucleic acid; and gene delivery platform, sAAVy is an adeno-associated virus, which is designed to optimize gene delivery for treatments in a range of indications and tissues. Its lead product candidate is LB-001 that is in Phase I/II clinical trials for the treatment of methylmalonic acidemia. The company has a collaboration with Children's Medical Research Institute to develop next-generation capsids for gene therapy and gene editing applications in the liver, as well as additional tissues; and a collaboration agreement with Takeda Pharmaceutical Company Limited to develop LB-301, an investigational therapy for the treatment of Crigler-Najjar syndrome. The company also has a research collaboration, license, and option agreement with CANbridge Care Pharma Hong Kong Limited; and collaboration agreement with Daiichi Sankyo Company. The company was incorporated in 2014 and is headquartered in Lexington, Massachusetts.

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Kiromic BioPharma, Inc., an artificial intelligence driven allogeneic cell therapy company, engages in developing the multi-indication allogeneic T cell therapies that exploits the natural potency of the Gamma Delta T cell to target solid tumors. The company develops ALEXIS-ISO-1, an allogenic gamma delta CAR-T cell therapy product candidate targeting Isomesothelin; and ALEXIS-PRO-1, an allogeneic gamma delta chimeric T cell therapy product candidate targeting PD-L1. It has license agreements with CGA 369 Intellectual Holdings, Inc. and Longwood University, as well as a research and development collaboration agreement with Molipharma, S.R.L. The company also has strategic alliance agreement with Leon Office (H.K.) Ltd. The company was formerly known as Kiromic, Inc. and changed its name to Kiromic BioPharma, Inc. in December 2019. Kiromic BioPharma, Inc. was founded in 2006 and is headquartered in Houston, Texas.

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Analyzing Kiromic BioPharma (NASDAQ:KRBP) and LogicBio Therapeutics (NASDAQ:LOGC) - Defense World

Pharmaceutical giant Eli Lilly and Co. is reportedly considering leaving Indiana as the Hoosier state has decided to go forward with more abortion restrictions.

Lilly recognizes that abortion is a divisive and deeply personal issue with no clear consensus among the citizens of Indiana, the company said in a statement Saturday. Despite this lack of agreement, Indiana has opted to quickly adopt one of the most restrictive anti-abortion laws in the United States.

Given Eli Lillys statement, you might think Indianas new abortion ban would be one of the toughest in the country, in line with other states like South Carolina, which is considering a near-total ban with exceptions only if the life of the mother is in danger. But Indianas new abortion ban thats slated to take effect on Sept. 15 only restricts abortions after ten weeks. It includes carve outs to protect the life of the mother, and continues to allow abortions in the case of rape and incest. The Indiana legislature, however, decided not to go forward with a provision that would require women who get abortions under the rape and incest exemptions to sign a notarized affidavit of their claim.

Indianas new pro-life law would also require that abortions be performed in hospitals or outpatient centers owned by hospitals, which means all abortion clinics will lose their licenses and, thankfully, be forced out of the state. Doctors who perform illegal abortions or fail to file proper reports about the procedure will also lose their medical licenses.

"We are concerned that this law will hinder Lilly's and Indiana's ability to attract diverse scientific, engineering and business talent from around the world, Eli Lillys statement continued. While we have expanded our employee health plan coverage to include travel for reproductive services unavailable locally, that may not be enough for some current and potential employees."

Read that again, and let it sink in. One of the most powerful companies in the world is openly pledging to circumvent the abortion laws in its home state by pledging to help women travel elsewhere to get abortions on the companys dime. All in the name of ensuring that the killing of unborn babies continues unabated.

Eli Lilly has made quite the habit of going after kids. In one of the largest settlements in pharmaceutical-industry history, Eli Lilly had to pay out $1.42 billion after it pleaded guilty to pushing Zyprexa, an antipsychotic, for off-label uses in children and elderly dementia patients in 2009.

Eli Lilly is the second- or third-largest employer in Indianapolis with 10,400 employees working out of its headquarters there.

"As a global company headquartered in Indianapolis for more than 145 years, we work hard to retain and attract thousands of people who are important drivers of our states economy. Given this new law, we will be forced to plan for more employment growth outside our home state, the Eli Lilly statement went on to say.

To a certain extent, Eli Lillys shift away from its conservative home state of Indianapolis in favor of the blue coasts has been going on for some time. The pharmaceutical giant has research and development outfits in New York City, San Francisco, and San Diego. It also recently announced a $700 million building project for a genetic-medicine facility in Boston. Nevertheless, Eli Lillys willingness to throw away almost 150 years of history, and replace or force large swaths of their workforce to move in the name of making sure women can kill their unborn child in the womb is a testament to the corporate sectors left-wing radicalism.

For far too long, the conservative movement has been mystified at corporate Americas willingness to jump in bed with liberals. Liberals want to raise taxes and regulate the economy, conservatives thought. How could corporate America side with them? Initially, conservatives thought it was an aberration. Then conservatives started to talk about betrayal. But for a while, the strongest language we could muster in response was that these institutions have been hijacked by low-level millennials.

Surely, theres a bit of truth to the "hijacked" narrative. But the alliance between liberals and capital is much more fundamental. By encouraging the individual's pursuit of the unbounded self, liberalism severs the ties that bind individuals to people and place. Marriage, family, community, and nation must all be radically redefined as nothing more than non-binding contracts the individual defines for himself.

But man, Plato reminds us, is a being in search of meaning. Trying to purge these traditional institutions of meaning does not not rid us of our natural impulse to pursue it. Whats left, then, to provide meaning, if life is but a series of self-conceived nugatory contracts?

In these circumstances, capitalism has an answer. If life is nothing but a series of contracts, then at least you get monetarily compensated for selling your labor, which cant be said for arguably more difficult jobs, being a husband or a wife or a parent.

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Corporate Americas support for abortion isnt just a matter of protecting its bottom line. Liberalism and capitalism are natural allies because both seek to free the individual from natural constraints, the former through rights, the latter through the pursuit of profit.

No surprise, Eli Lilly found some support from the Indianapolis Chamber of Commerce. "Over the last two weeks, the Indiana General Assembly has debated a substantial policy change on the issue of abortion in a compressed timeframe," a statement from the chamber said. "Such an expedited legislative process rushing to advance state policy on broad, complex issues is, at best, detrimental to Hoosiers, and at worst, reckless."

This isnt to say that conservatives shouldnt care about free and fair markets. Its the recognition that markets, like the rights that we enjoy while participating in them, are intermediate ends to a higher social goodthe flourishing of human society. And babies, dare I say, are pretty important to that mission.

Go here to read the rest:
Corporate America's Abortion Radicalism - The American Conservative

MEXICO CITY Back in 2019, while she worked for the biotech Regeneron Pharmaceuticals, Claudia Gonzaga heard a rumor that thrilled her. The company would begin sequencing and analyzing the DNA of 150,000 people from Mexico City, thanks to a research collaboration with the University of Oxford.

As the only Mexican geneticist at Regeneron, Gonzaga saw this as a unique opportunity. She had previously tried to convince her colleagues to sequence the genomes of people from Mexico, where researchers have found a stunning amount of human genetic diversity, but to no avail. The new partnership meant she would be able to resume her plans. I was so pleased, she said.

She was similarly surprised when she later learned that Oxford researchers had very much tried to keep this a Mexican study. While Oxford, not a Mexican institution, had physical custody of all the samples, Mexican epidemiologists had actively participated in almost every step of the research, and once the genetic data were ready, the Oxford team would make them public and offer rapid, free, and preferential access to Mexican scientists.

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It went against the long history of parachute science or helicopter research when researchers from wealthier nations visit low- and middle-income countries to collect data and samples, analyze them back at home, and publish the results with little or no involvement of local scientists.

Gonzaga left the company for academia in 2020 and went back to Mexico. She hasnt gotten her hands on the data yet, though shes already planning what shell do with them, such as hunting for genetic variants closely linked to diseases like breast cancer and calculating how frequent they are in Mexicans. And she is pushing to have a physical copy of the genetic biobank hosted at her institution.

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I have many ideas of things we can do, said Gonzaga, now a genomicist studying genetic disorders at the International Laboratory for Human Genome Research of the National Autonomous University of Mexico (UNAM) in Quertaro. What I need now is having access to the data.

The building and study of massive sets of genetic data from Mexicans is part of a global effort to make genetic collections and biobanks, which are still too white, representative of all humans. Though necessary to achieve that goal, international partnerships pose uncomfortable questions, such as who owns the data, whom to share it with, and what for.

Experts mostly laud the Mexico City project for avoiding the worst sins of parachute science and aiming to strengthen research capacity in the country, though Oxford controls access to the data and Mexican scientists like Gonzaga are still waiting for it. Some experts also warn that, when trying to promote fairer international collaborations and diversify the people they study, local researchers must be careful not to perpetuate the same discrimination they sometimes face, by excluding Mexicos many Indigenous populations from participating actively in research involving their communities.

Lets not forget that exploitation, extractivism, and colonialism also exist [in our countries], said Amaranta Manrique de Lara, a genomicist and bioethicist at the General Hospital of Mexico in Mexico City. In our effort to combat old biases, we may be generating new ones.

In the 1990s, a simple yet ambitious question arose: What is killing Mexicans?

We knew an awful lot about what killed white middle-aged men and women, said Jonathan Emberson, a statistical epidemiologist at the University of Oxford. But there was a real dearth of evidence for everyone else, he added.

To find that data, a group of epidemiologists from Oxford and Mexicos Secretariat of Health teamed up. Between 1998 and 2004, they sent hundreds of trained nurses to the homes of more than 150,000 people in two contiguous districts in Mexico City Iztapalapa and Coyoacn to ask about their health history, measure their vitals, and draw a tube of blood from them. But their blood samples, and the DNA within them, remained largely untouched for about two decades at Oxford. Until 2019, that is, when the team approached Regeneron and the pharmaceutical companies AstraZeneca and AbbVie for help with sequencing and analyzing the genetic material.

It was then that Gonzaga first heard about the Mexico City Prospective Study, or MCPS an ongoing project that has followed participants over the years to understand the social, lifestyle, physical, and genetic causes of complex diseases, such as diabetes and obesity. The study resurveyed 10,000 surviving participants between 2015 and 2019.

It really is a waiting game, said Emberson, who is the program leader for the MCPS. You need to wait until, sadly, enough participants have had diseases of interest and you dont get that within just a few years.

In fact, it was not until 2016 that the MCPS published its first major finding. After reviewing the death certificates of participants, the researchers found that those with diabetes had a strikingly worse prognosis than that seen in high-income nations. In Mexico City, it turns out, the rate of death from any cause was almost four times as high among people with diabetes as among those without the disease.

More recently, in a preprint published in late June, the team added to its extensive evidence the genetic sequences for MCPS participants, hoping to find new gene variants associated with diseases. They mostly focused on the exomes, regions that make up the 2% of the human genome that code for proteins, which drug hunters typically mine to uncover disease-linked changes.

With this, the MCPS has become the most extensive genetic study in people outside the U.S., the U.K., or Iceland which together account for over 72% of all participants in genome-wide association studies, known as GWAS, which scientists use to hunt for snippets of DNA that may be linked to a certain disease or trait. Latin Americans make up around 8% of all people on the planet, yet they constitute 0.25% of all these genetic studies, according to the online tracker GWAS Diversity Monitor.

The MCPS genetic sequences have already proven their worth. They were included in a paper, published in Science last year, that discovered rare mutations that inactivated a gene called GPR75, which was associated with protection against weight gain people with these variants tended to weigh about 12 pounds less and face a 54% lower risk of obesity than those without the mutation. (Emberson noted that while MCPS data were a worthwhile addition to the GPR75 paper, the discovery didnt ultimately depend on any of it. Regeneron spokesperson Ella Campbell, however, wrote in an email to STAT that they were needed to ensure the discovery held true with different populations.)

Regeneron and AstraZeneca have announced they are developing drug candidates directed against GPR75 to treat obesity. Should a medicine eventually reach market, Campbell wrote, Oxford and Regeneron would be able to share or generate their own intellectual property, according to their collaboration agreement.

As the only Mexican institution in the MCPS, UNAM equally shares any intellectual property rights with Oxford. We both own the information, said Jess Alegre Daz, a medical epidemiologist at UNAMs Faculty of Medicine in Mexico City and one of the three Mexican principal investigators involved in the MCPS. Were Mexicans studying Mexicans.

Elida Fernndez, a lawyer at UNAM, said a research agreement between both universities was signed in early August with the purpose of resurveying surviving participants. Among other things, the contract, which STAT reviewed, dictates that both UNAM and Oxford can use the samples and data and that the results of the research including all intellectual property rights, data, discoveries, and patents will be shared between both institutions.

The vast amount of genetic data pouring out of the MCPS has some Mexican geneticists salivating to get their hands on it.

In 2016, Andrs Moreno Estrada, a human population geneticist at Mexicos National Laboratory of Genomics for Biodiversity in Irapuato, and colleagues launched the MX Biobank project, which sequenced the DNA of about 6,000 people from across the country, including many from Indigenous communities and rural areas. Though the biobank also works in partnership with Oxford, Moreno Estrada said that they negotiated to keep the guts of the project in Mexico to build its research capacity the samples are hosted in a Mexican institution, the bulk of the genomic analysis is led by the Mexican research team, and many of the projects former students are continuing their careers studying the data they generated.

He recently approached the MCPS researchers in hopes to collaborate and share their respective datasets with each other. We dont have their numbers, he said, referring to the size of the MCPS dataset. They are discovering things that we cant.

He might need to wait a bit longer.

Regeneron has launched an online browser that includes the genetic variation found across all 150,000 participants, making it freely accessible to anyone. But the browser, for now, is not very useful, said Gonzaga. It lacks key information that makes it difficult to know whether a disease-linked variant is present in 100 or 10,000 people, for example.

So far, the MCPS research group at Oxford holds the custody of the studys samples and data. It happens to be that this process has been managed at Oxford at the moment, Emberson said. But, I mean, maybe in the future it will be done separately or jointly with UNAM. The recently signed agreement may allow that.

Still, the MCPS has made important progress to support Mexican scientists and strengthen local research capacity. Oxford has trained staff in Mexico and paid for courses and short-term research placements, said Emberson. And as soon as the data are clean, Mexican researchers will have free and preferential access to it for a period of two years. Researchers based elsewhere in the world will need to pay up to 2,500 (about $3,000) to receive the data.

The policy feels like a step in the right direction, said Mashaal Sohail, an evolutionary geneticist at UNAMs Center for Genomic Sciences in Cuernavaca. And one thats not very common. Even within Mexico, she said, people are generating data and not sharing it with other academic groups.

Even if international partnerships move toward fairer conditions, some scientists warn that may not be enough.

Stripping [genomic science] of its colonialism, hierarchy, and structural violence has to be an everyday task, said Jocelyn Che Santiago, a Binniz genomic scientist at UNAM in Mexico City (the Binniz, also known as Zapotec, are one of Mexicos 68 Indigenous groups.) If we are not going to discuss the colonialism [aspect] of our research, then whats the point?

For decades, Mexico has tried to guard the genetic data of its citizens. In 2008, Congress passed a national law that embraced the idea of genomic sovereignty, a concept that aims to protect Mexican DNA by itself absurdly difficult to define, critics say from foreign interests. And many researchers saw it as a way to break this relationship between us Mexicans as suppliers of samples, and foreign scientists as the ones who analyzed [them], said Ernesto Schwartz-Marn, an ethnographer who probes the interaction between race and genomics at the University of Exeter, U.K.

But the law has made little difference. Genomic sovereignty is a bulls term, Schwartz-Marn said. Its impossible to execute because theres no way to say what the Mexican genome is or looks like. And theres no consensus about who is supposed to guard it.

In 2010, the state of Nayarit included a provision in its constitution on genomic sovereignty. Schwartz-Marn indirectly participated in its design, and suggested that the language enable Indigenous peoples to protect their own genetic data. When we tried to get this into the draft, he said, thats exactly what [legislators] erased.

The incident is a window into a double standard in Mexico, said Manrique de Lara. When studying Indigenous populations or other groups, such as people who live with a disability or disease, Mexican scientists often do a lot of this parachute research we so often criticize. And rare is the case when study participants see any benefits from the science, she added.

The way to counter that is by creating fairer collaborations, Che Santiago said, where participants have an active role in the research such as deciding what questions to ask, how to ask them, and who has custody over the data. That we are no longer part of the menu, she said, but part of the table where decisions are made.

Its something thats happening elsewhere. In Australia, the National Centre for Indigenous Genomics is governed by a majority-Indigenous board, and has approached communities to ask what they wish to do with their samples. In Chile, recent efforts to explain the uses and limitations of genetics led scientists and Indigenous people to come together in a three-day workshop. And in countries like the U.S. and Canada, the Summer Internship for Indigenous peoples in Genomics (also known as SING) have trained Indigenous participants in genomics and its ethical implications.

Such changes are coming slowly in Mexico. Manrique de Lara and colleagues who teach future geneticists at UNAMs Center for Genomic Sciences have started to incorporate parachute science, scientific colonialism, and other bad practices into the syllabus of their classes.

If we do our job right, she said, well be seeing this internal change in the next generation of researchers.

Correction: This story has been updated to say that the MCPS has become the most extensive genetic study in people outside the U.S., the U.K., or Iceland.

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A team of Oxford and Mexican researchers want to diversify genomic databases. Can they end 'parachute science,' too? - STAT

Why does the risk of heart disease go up as we age? Known risk factors such as hypertension or high cholesterol dont explain all cases. A first-of-its-kind study from Boston Childrens Hospital now shows that the cells that make up our heart muscle accumulate new genetic mutations over time whilelosing the ability to repair them.

Findings were published August 11 in the journal Nature Aging.

The research team, led by Sangita Choudhury, PhD, and August Yue Huang, PhD, in the Division of Genetics and Genomics at Boston Childrens, sequenced the entire genomes of 56 individual heart muscle cells, known as cardiomyocytes, from 12 people across the age spectrum from infancy to 82 years who had died from causes unrelated to heart disease.

Cataloguing mutations in the aging heart

Using sophisticated bioinformatics techniques and analyses, the team compared the number of non-inherited mutations, known as somatic mutations, in cells of different ages and also looked for mutational patterns or signatures that might illuminate the mechanisms of heart disease.

This is the first time somatic mutations have been looked at in the human heart at the single-cell level, says Choudhury, who is co-first author on the paper with Huang.

The older the cells were, the more single letter changes (known as single-nucleotide variants) they had in their DNA. The pattern of these mutations suggested that many of them were caused by oxidative damage.

Because the heart is always pumping, it uses a lot of energy, elaborates Ming Hui Chen, MD, MMSc, a cardiologist in the Division of Genetics and Genomics and Department of Cardiology at Boston Childrens. This energy production creates chemical byproducts known as reactive oxygen species or ROS. When levels of ROS get too high, they can damage DNA.

Adding insult to injury, mutations also affected pathways cells normally use to repair DNA damage. The mechanisms that repair DNA damage are also impacted by age, says Choudhury. These may be overwhelmed if there is enough oxidative damage.

The technically difficult study drew on single-cell whole genome sequencing and bioinformatics techniques pioneered in the laboratory of Christopher Walsh, MD, PhD, at Boston Childrens, of which Choudhury and Huang are members. The Walsh lab recently used the methods to document the accumulation of mutations in neurons in people with Alzheimers disease.

Typically, cells that dont continue to divide, like heart cells, are less susceptible to mutations. But the researchers found that cardiomyocytes accumulated mutations as fast or faster than some dividing cell types; the researchers calculated that they averaged more than 100 new mutations per year per cell.

Heart cells also accumulated mutations at rate three times faster than neurons, another cell type that doesnt divide, says Huang.

In addition to DNA repair pathways, mutations affected genes involved in the cytoskeleton, the scaffolding that gives cells their structure, and other basic cell functions.

As you age and get more mutations, youre adding deleterious effects that might push the heart past a tipping point into disease, says Chen, who was co-senior investigator on the study with Walsh and Eunjung Alice Lee, PhD. It may get to a point where so much DNA is damaged that the heart can no longer beat well.

More to explore

The researchers note that their study only looked for single-nucleotide variants and did not investigate other types of mutations, such as DNA insertions or deletions. Also, because they looked at healthy heart cells, they cant establish that the mutations are involved in heart disease. In the future, they plan to look at mutations in tissue from patients with different cardiovascular diseases.

Chen, who studies how chest radiation and chemotherapy for cancer affects cardiac health, plans to collect data from cancer patients who have heart disease.

We also want to look at different cell types in the heart, adds Choudhury. Weve only touched the tip of the iceberg.

The study was funded by the American Heart Association, the National Heart, Lung and Blood Institute (R01HL152063), the Manton Center for Orphan Disease Research at Boston Childrens Hospital, the Allen Discovery Center for Human Brain Evolution, the Howard Hughes Medical Institute, the National Institute of Neurological Disorders and Stroke (R01NS032457), the National Institutes of Health (DP2AG072437; R01AG070921, K08AG065502, T32HL007627), the National Institute of General Medical Sciences (T32GM007753), the National Library of Medicine (T15LM007092), the Brigham and Womens Hospital Program for Interdisciplinary Neuroscience (via Lawrence and Tiina Rand), the BrightFocus Foundation (A20201292F), and the Doris Duke Charitable Foundation (2021183). The authors declare no competing interests.

About Boston Childrens Hospital

Boston Childrens Hospitalis ranked the#1 childrens hospitalin the nation byU.S. News & World Reportand is a pediatric teaching affiliate of Harvard Medical School. Home to the worlds largest research enterprise based at a pediatric medical center, its discoveries have benefited both children and adults since 1869. Today, 3,000 researchers and scientific staff, including 11members of the National Academy of Sciences,25 members of the National Academy of Medicine and10Howard Hughes Medical Investigators comprise Boston Childrens research community. Founded as a 20-bed hospital for children, Boston Childrens is now a 485-bed comprehensive center for pediatric and adolescent health care. For more, visit our Answers blogand follow us on social media @BostonChildrens, @BCH_Innovation, Facebook and YouTube.

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The authors declare no competing interests.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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The aging heart accumulates mutations while losing the ability to repair them - EurekAlert

CAMBRIDGE, Mass., Aug. 04, 2022 (GLOBE NEWSWIRE) -- Generation Bio Co. ( GBIO), a biotechnology company innovating genetic medicines for people living with rare and prevalent diseases, reported business highlights and second quarter 2022 financial results.

We are advancing our leading non-viral genetic medicine platform to unlock the potential of durable, redosable non-viral DNA therapeutics, and we have made significant progress in establishing the proprietary technologies necessary to realize our vision, said Geoff McDonough, M.D., president and chief executive officer of Generation Bio. This quarter, process development and scaling of rapid enzymatic synthesis (RES) for production of our closed-ended DNA (ceDNA) construct has allowed us to pursue a more flexible and capital efficient manufacturing strategy. In the remainder of the year, we plan to continue to develop our unique cell-targeted lipid nanoparticle (ctLNP) system for systemic delivery to hepatocytes, as well as for other therapeutic areas such as the retina and vaccines.

Business Highlights

Second Quarter 2022 Financial Results

About Generation BioGeneration Bio is innovating genetic medicines to provide durable, redosable treatments for people living with rare and prevalent diseases. The companys non-viral genetic medicine platform incorporates a novel DNA construct called closed-ended DNA, or ceDNA; a unique cell-targeted lipid nanoparticle delivery system, or ctLNP; and a highly scalable capsid-free manufacturing process that uses proprietary cell-free rapid enzymatic synthesis, or RES, to produce ceDNA. The platform is designed to enable multi-year durability from a single dose, to deliver large genetic payloads, including multiple genes, to specific cell types, and to allow titration and redosing to adjust or extend expression levels in each patient. RES has the potential to expand Generation Bios manufacturing scale to hundreds of millions of doses to support its mission to extend the reach of genetic medicine to more people, living with more diseases, around the world.

For more information, please visit http://www.generationbio.com.

Forward-Looking Statements

Any statements in this press release about future expectations, plans and prospects for the company, including statements about the companys strategic plans or objectives, manufacturing plans, cash resources, technology platform, including RES, research and clinical development plans, and preclinical data and other statements containing the words believes, anticipates, plans, expects, and similar expressions, constitute forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors, including: uncertainties inherent in the identification and development of product candidates, including the conduct of research activities, the initiation and completion of preclinical studies and clinical trials and clinical development of the companys product candidates; uncertainties as to the availability and timing of results from preclinical studies and clinical trials; whether results from earlier preclinical studies will be predictive of the results of later preclinical studies and clinical trials; uncertainties regarding the RES manufacturing process; uncertainties regarding the companys ability to assign or sublease its manufacturing property; whether the changes to the companys manufacturing strategy will achieve the anticipated savings; challenges in the manufacture of genetic medicine products; whether the companys cash resources are sufficient to fund the companys operating expenses and capital expenditure requirements for the period anticipated; the impact of the COVID-19 pandemic on the companys business and operations; expectations for regulatory approvals to conduct trials or to market products; as well as the other risks and uncertainties set forth in the Risk Factors section of the companys most recent annual report on Form 10-K and quarterly report on Form 10-Q, which are on file with the Securities and Exchange Commission, and in subsequent filings the company may make with the Securities and Exchange Commission. In addition, the forward-looking statements included in this press release represent the companys views as of the date hereof. The company anticipates that subsequent events and developments will cause the companys views to change. However, while the company may elect to update these forward-looking statements at some point in the future, the company specifically disclaims any obligation to do so. These forward-looking statements should not be relied upon as representing the companys views as of any date subsequent to the date on which they were made.

Investors and Media ContactMaren KillackeyGeneration Bio[emailprotected]857-371-4638

GENERATION BIO CO.CONSOLIDATED BALANCE SHEET DATA (Unaudited)(In thousands)

GENERATION BIO CO.CONSOLIDATED STATEMENTS OF OPERATIONS (Unaudited)(in thousands, except share and per share data)

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Generation Bio Reports Business Highlights and Second Quarter 2022 Financial Results - GuruFocus.com

Test tube with DNA molecule on abstract background

Genetic testing once was offered only to people with rare genetic conditions, or strong family histories of disease that spanned generations. But genetic testing is now being offered to healthy people, to detect if they carry a genetic change (often referred to as a variant or mutation) that may place them at high risk to develop preventable conditions, including some cancers and cardiac conditions.

In theory, population genetic testing makes sense. Instead of waiting for a person to die of a heart attack at a young age, we can learn of some of those risks ahead of time and mitigate them. This approach works not only for the person having testing and their family members who may also be at risk but also for our medical system, employers, and overarching health care costs that we, as a society, want to minimize.

But in practice, are we there yet? Cristis story illustrates that we still have a long way to go to make population genetic testing a win for the patient and their family members. Cristi is a certified genetic counselor who, like many of us, knew that several members of her family had developed cancer. But the cancers in Cristis family did not fit into a known hereditary cancer syndrome. Cristis mom had genetic testing based on her personal history of a brain tumor and melanoma, and family history of breast and prostate cancer, and no mutations were found in her DNA. So when Cristi signed up for genetic testing to check the customer experience of a population-based screening program offered by her company, she was surprised to learn that she carried a pathogenic variant in a gene called RET.

People who carry a RET variant have a syndrome called Multiple Endocrine Neoplasia 2A (MEN2A) and are considered to have an almost 100% chance of developing an aggressive type of thyroid cancer called medullary thyroid cancer. For this reason, people with MEN2A have traditionally been counseled to remove their thyroid gland preventively, often in childhood, before they develop cancer. MEN2A is also associated with a high risk of developing pheochromocytomas (tumors on the adrenal glands) and tumors of the parathyroid glands. Recommendations for people with MEN2A include specialized screening for these tumors each year, consisting of blood work and ultrasound imaging.

At first, Cristis healthcare team thought her genetic results must be a mistake. This genetic finding was not consistent with her personal or family history. So, Cristi repeated the testing and confirmed that she definitely carried a RET variant. Another family member subsequently tested positive for the same variant.

Cristis healthcare team told her that she had up to a 95% chance to develop cancer. But because Cristi is a genetic counselor and has worked for several commercial laboratories, she dug deeper. Given her family history, which was not consistent with a traditional RET mutation, the results did not make sense to her. Cristi found a published paper in a medical journal showing that her specific RET variant is likely associated with a much lower risk of these cancers. Through her professional network, she obtained data from multiple laboratories on families with the same RET variant that appeared consistent with this journal article, and she scheduled an appointment with the articles author. She even had a local genetic counselor and patient advocate attend her appointments virtually with the author to ensure that her local healthcare team would have the same information. Cristi was advised by the papers author that, in her case, screening for thyroid cancer would be a reasonable approach. Cristi decided to opt for regular blood screening and ultrasounds instead of surgical removal of her thyroid gland, which is the protocol for traditional RET variants. Cristi realized she was unique because most people with her initial testing result would not have access to these extraordinary resources and would have likely proceeded with removal of their thyroid gland, the approach her healthcare team and peers were recommending adamantly.

Financial toxicity.

On its face, Cristis story seemed to be a success, although one driven by education, experience, and network. At first, she was understandably relieved. The treatment plan was non-invasive, reasonable, and data driven. Soon, however, Cristi learned that the plan was also financially toxic. We have published two previous papers discussing financial toxicity, including one in the setting of a breast cancer diagnosis.

Cristi had to wait 3 months for an appointment to see a specialist to have her screenings. Overall, the medical costs associated with establishing a screening plan that year and the associated health insurance deductibles cost her over $3,000. The average out-of-pocket costs in subsequent years for her RET specific screening are estimated to be at least $1,700/year, for the rest of her life - and that assumes additional testing is not necessary. If we include the costs she must pay for her at-risk breast cancer screenings, based on her family history, the total out-of-pocket comes to $3,200 a year. It is not surprising that many patients skip healthcare visits they need due to uncertainty around costs.

Ironically, the removal of Cristis thyroid gland which was not necessarily warranted based on her genetic variant, would be covered by her health insurance, as would the lifetime medications needed post-removal, and time off for recovery. The facts beg the question: are patients being pushed to have organ and tissue removal, instead of surveillance, due to the costs of lifetime surveillance? We must answer this critical question before we can move forward with population genetic testing and precision medicine.

Now consider that Cristis children and other relatives are offered genetic testing based on her finding and, if positive, must also have undergo similar surveillance every year. If Cristi and/or her family members receive an abnormal, or even borderline testing result, they require more testing and imaging. These procedures may or may not be covered by their insurance given the lack of guidelines for mutations that do not confer the traditional risk.

Another issue to consider is that Cristi must use paid time off (PTO) for her, and her family members, medical appointments. If we consider 10 days to be the average number of PTO for private sector employees who complete one year of service, this means that between her RET visits, routine visits, dental and vision, Cristi will use 9.5 PTO days per year for preventative care. If we consider the average persons PTO, that equals 9.5 out of 10 days off/year on medical appointments alone. This figure does not include routine appointments needed for her children, such as when they are sick, and of course it does not account for vacation time. This reality is the unfair price one person pays for doing what she can, and should, do to keep herself and her family healthy and cancer free.

Population testing may help people avoid serious diseases and death, which is a worthy goal for patients, employers, payers and our population at large. But if we support this testing, we must also support individuals who test positive for a pathogenic mutation by providing:

accurate genetic counseling information from a specialist, tailored to that individual test result;

updated information as we learn more about each genetic variant and recommended management;

full coverage of both surveillance and prophylactic surgeries appropriate to that genetic finding;

employer flexibility to support the PTO associated with the medical management pathways;

clinics that support both high risk appointments and routine screening simultaneously, so that patients avoid multiple appointments at different sites spanning numerous days.

Population genetic testing is coming and will save lives and money, for our health care system and employers. But Cristis story is a cautionary tale: before we establish population testing programs, it is essential that we carve pathways for participants, to ensure that they are both covered and supported by their insurers, clinicians, and employers throughout this lifetime journey.

***Co-author Cristi Radford, MS, CGC is a genetic counselor who shifted her career to the payer space to develop programs addressing the unique needs of patients with genetic conditions. She is one of few professionals nationwide with expertise in genetic counseling and testing, the payer space, and financial toxicity.

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Population Genetic Testing: Save Lives And Money, While Avoiding Financial Toxicity - Forbes