Category Archives: Genetic medicine

Precision and personalised medicines are more than products, they are services in their own right. So, how should pharma approach this uncharted territory to ensure targeted therapies work for patients?

Personalised and precision medicines are exciting fields that focus on the development of treatment and prevention strategies for a single patient or patient group. The treatments are developed using cutting- edge technologies such as genomic sequencing and genetic engineering, helping to account for the individual variability in both patient and disease characteristics.

This has gained a lot of attention in recent years due to revolutionary breakthroughs in debilitating chronic diseases such as cancer. Traditionally, cancer patients are treated using one size fits all interventions like chemotherapy, radiotherapy and surgery. These vary in their effectiveness and result in damage to healthy tissues.

Personalised and precision medicine, however, can offer specialised treatments that target the patients unique cancer subtype, its genetic mutations, and the affected tissues.

These therapies involve novel pathways and complex processes to aid and deliver treatment, making each therapy a service in its own right. They depend on many touchpoints, stakeholders, partnerships and interdependencies to treat patients.

As a result, designing suitable services to support patients, caregivers and healthcare providers throughout the treatment pathway is essential. However, doing so successfully depends on understanding how to best approach the design of services in this challenging landscape.

Optimising the service behind the personalised and precision medicine is crucial for turning the treatment into a viable and differentiated option for patients. To make a real difference and ensure the therapy is competitive, we need to adopt a service design approach.

Service design is a multidisciplinary art and science that enables us to take a holistic view of the service experience, along with a deep understanding of the target groups, such as patients and healthcare professionals, and the context they operate in. This can include using empathic methodologies, such as in-depth interviews and field studies.

Gaining a comprehensive understanding of the customers needs, how they experience the current service, and how future services address their unmet needs.

Involving different stakeholders throughout the design process to gain a wide range of knowledge and expertise, and to further drive customer-centricity across the business.

Using visual tools such as sketches, maps and prototypes to improve and ease communication and collaboration between the different stakeholders involved in the creative process (surpassing language and knowledge boundaries).

Following a learning-by-doing approach via continuous prototyping and testing to evaluate solutions before investing time and resources on development.

Understanding how the customer experiences the whole service journey and then identifying insight gaps and opportunities for service innovation by looking at the big picture.

Personalised and precision medicines are naturally patient-centred (compared to traditional pharmaceuticals), as the individual patient is central to the product design. Taking this empathic approach throughout the design process provides a deeper understanding of those needs as well as their context.

This means not only adopting collaborative thinking during the design phase but also during production and development.

To deliver these unique therapies to patients, pharmaceutical companies must partner with a wide range of specialised third parties including laboratories, manufacturers, shipping and storing providers.

Looking at the entire service and all of its touchpoints from above is crucial

By engaging with multidisciplinary teams from all levels across the organisation, as well as numerous stakeholders during the co-creation process, you will increase the organisations knowledge and expertise, resulting in better and more fit-for-purpose solutions. Bring this sense of collaboration into the design process to encourage a higher level of consistency, placement and commitment to the patient and ensure they are at the centre of the service philosophy.

Novel therapies require designers to be adaptive. New developments such as changes in the supply chain, shorter genomic sequencing process or the need for an additional quality assurance step, often lead to changes to the envisaged treatment pathway. As a result, it is necessary to have a view of the whole service, in one place, which can be continuously updated.

Visual tools such as customer journey maps and service blueprints are a core part of service design. Journey maps (such as the one featured on p.16) provide an overarching view of the customer experience, along with the pain points, gaps, unmet needs and opportunities for engagement. Service blueprints visualise the process behind the service and the people impacted by it. These tools not only make it easier to understand the service, but they can also help simplify communication and increase alignment between the many individuals engaged in the project.

For personalised and precision medicines, patient journeys and service blueprints can help capture the front-end of the service, which is visible to patients, and the back-end processes, which are used by healthcare professionals. This gives us insights into the interactions, touchpoints and relationships between the patient and various stakeholders, such as the different healthcare professionals, carers and patient groups. Looking at the entire service and all of its touchpoints from above is crucial for making improvements that enrich the customer experience.

CAR-T is a new individualised cancer immunotherapy that has taken precision medicine to a new level. In a nutshell, CAR-T therapy involves extracting T-cells (a type of white blood cells that play a key role in immune response) from the patient, genetically engineering them to target the cancer cells and infusing them back into the patients body.

The CAR-T treatment pathway for a blood cancer involves a uniquely large number of stakeholders, touchpoints and interdependent processes that take place both in the front-end (i.e. visible to the patient) and back-end (i.e. visible to healthcare professionals). Below is a high- level overview of a typical CAR-T journey that can illustrate this complexity:

1. After the patient has identified as a suitable candidate for CAR-T therapy, they are referred by their primary oncologist to a specialised treatment centre to further assess treatment eligibility

2. Once eligibility has been established, the patient undergoes leukapheresis to extract T-cells

3.The samples are sent to a separate facility where they are frozen and prepared for shipping

4. The cells are then sent to a manufacturer where they are genetically engineered to target the patient's cancer cells and multiplied - to create the CAR-T product

5.The product needs to be shipped back to the treatment centre and stored frozen until the patient is ready for infusion

6. The shipping and manufacturing processes can take 34 weeks, during which the patient receives bridging therapy (to slow down disease progression)

7.A few days before the infusion, the patient undergoes lymphodepleting chemotherapy to prepare their body

8. After the infusion, the patient needs to be closely monitored for side effects for 1-3 weeks. Some side effects (e.g. Cytokine Release Syndrome) can require hospitalisation

9. The post-infusion period involves continuous tumour assessment and long-term follow-up

We recently pitched to a pharmaceutical company preparing to launch their new CAR-T therapy to help them design a set of patient-and caregiver-supporting services. We quickly became aware ofthe complicated nature of this therapy and decided to kick off by mapping the treatment pathway and the actors involved.

We normally kick off this type of project by conducting primary research with customers (using empathic methodologies) to generate insights that can inform the journey design. However, due to its novelty, it was difficult to access patients who have recently undergone CAR-T therapy. Instead, we carried out in-depth interviews with different types of stakeholders who had considerable experience working on early CAR-T therapies and clinical trials. This gave us insights into the healthcare professionals experience and visibility into the back-end processes.

The insights we gathered allowed us to understand the experience of patients and their caregivers. We could identify their emotional, practical and information-related needs and highlight the pain points that need to be addressed by the future services.

We also created empathy maps, another tool from the service design toolkit, to visually articulate what we know about the customers.

Once we completed the CAR-T patient and caregiver empathy maps, we created the CAR-T journey. The process relied heavily on co-creation by gathering input from key collaborators from the client company, including both medical and commercial personnel.

The continuous consolidation of insights from primary research, secondary research and stakeholder research was highly iterative. This ensured that the journey captured the envisaged treatment pathway in an accurate and comprehensible manner and that we were able to identify insight gaps as they emerged. From there we could then initiate the required steps to address them through additional research.

When executed correctly, a good customer journey is also adaptive and can be re-worked to reflect the changes that naturally occur over time. This is particularly important for journeys that have beencreated pre-launch and need to be revised, post-launch, to align with the emerging reality of the treatment, and for dealing with complicated treatments that are prone to nuanced changes. Both of these scenarios were true in the case of the CAR-T treatment.

The patient journey can also be used in collaborative design workshops with the client and their partners, as it successfully communicates a complicated pathway in a structured, easily digestible visual manner. It acts as a common language that different collaborators from different roles and backgrounds can use to achieve a shared understanding of the envisaged process and the end-to-end customer experience.

Last and perhaps most importantly it can be used to inform and generate new service ideas collaboratively using the journey as a stimulus, by focusing on key pain points and unmet needs.

This type of work is not possible without service design methodologies. These tools enable a diverse group of professionals from different roles and companies to come together and benefit from holistic, visual, customer-centred tools like empathy maps and customers journeys that make iteration and co-creation possible.

To find out how we can help you design a service for a complex medicine, contactsimon.young@fishawack.com

If you would like to request a free, full copy of our CAR-T Service experience map (snippet pictured above) please get in touch withnatasha.cowan@fishawack.com

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In the precision medicine era, the line between products and services is blurred - PMLiVE

SAN FRANCISCO, Sept. 3, 2020 /PRNewswire/ --Invitae (NYSE: NVTA), a leading medical genetics company, today announced enrollment has begun for a nationwide study to better understand the role of current genetic testing guidelines in ensuring prostate cancer patients receive testing to identify clinically relevant genetic variants that can inform prognosis and support access to targeted therapies. The study is supported by Invitae and is part of the company's ongoing work to increase access to genetic information for men with prostate cancer.

"Currently, germline testing guidelines for patients with prostate cancer have evolved from more than one set of NCCN guidelines and some may still find these guidelines difficult to implement in everyday practice," said Neal D. Shore, M.D., F.A.C.S. from the Carolina Urologic Research Center in Myrtle Beach, South Carolina, and the principal investigator of the study. "Guidelines were established when testing was both more expensive and less accessible and don't address newer therapeutic approvals and trial literature for expanding therapeutic options, missing many patients whose clinical care and treatment choices could benefit from genetic information. Our study is intended to provide a deeper understanding of how these issues impact the care of men with prostate cancer so that we might improve how genetic information can be assessed and utilized for their cancer care and potentially inform their family members."

The use and importance of genetic information in the diagnosis and treatment of prostate cancer has been growing, particularly as the development of targeted treatments continues to accelerate. Despite its utility, guidelines governing testing among prostate cancer patients remain restrictive, and genetic information is underutilized in prostate cancer care. The study will determine whether guidelines are adequate in identifying patients who may benefit from genetic testing.

"Simplifying and possibly expanding current testing guidelines would provide benefits for medical management of men with prostate cancer and offer opportunities for targeted therapies, including PARP inhibitors and qualification for clinical trials," said Robert Nussbaum, M.D., chief medical officer of Invitae. "In addition, the genes involved in prostate cancer include BRCA1 and 2, which as we all know also play an important role in breast and ovarian cancer, and MSH6 and other genes involved in hereditary colon cancer. Widespread testing among men with prostate cancer could have an important role in not only improving their care but also the health of their relatives."

The study will enroll men across the country who have been diagnosed with prostate cancer. Both men who meet and don't meet current testing guidelines will be included to gather data on whether genetic testing results change treatment and recommendations. In addition, the study will also gather data on the patient's experience with genetic testing.

A study presented recentlyby Invitae at the American College of Medical Genetics and Genomics (ACMG) underscored the frequency of actionable variants expanded testing can help uncover. The study of 2,252 men found an overall positive rate of 13% with no statistical differences in rates among stages of disease. Only half of patients with an actionable variant reported a family history suggestive of increased risk. Nearly three-quarters (71%) of positive patients were eligible for management guidelines and/or potentially eligible for approved precision therapies or clinical trials.

An estimated three million men are living with prostate cancer in the U.S., and just under 200,000 are newly diagnosed each year.

Contact [emailprotected] for more information about the study.

About InvitaeInvitae Corporation(NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website atinvitae.com.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the use and importance of genetic testing and information; and the benefits of simplifying and possibly expanding current testing guidelines for men with prostate cancer. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended June 30, 2020. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Laura D'Angelo[emailprotected](628) 213-3283

SOURCE Invitae Corporation

http://www.invitae.com

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Multi-site study to evaluate the role of testing guidelines in ensuring access to genetic information for men with prostate cancer - PRNewswire

Lung cancer cells invade surrounding tissues and start to spread.Image courtesy of the National Cancer Institute

A malignant tumor is a bustling metropolis populated by many different kinds of cancer cells. This cellular diversity, however, is what makes cancer so difficult to treat, as each type of cell in a tumor responds differently and sometimes not at all to cancer therapies. This is especially true for lung cancer, which often responds to an initial course of treatment, only to remerge after becoming drug-resistant, making it the deadliest form of cancer worldwide.

A better understanding of the diversity that exists within a lung tumor would likely lead to more effective treatments. Today, clinicians generally rely on tests that generate genetic profiles of biopsied tumors in bulk rather than one cell at a time. Unfortunately, this usually fails to capture the full extent of cellular diversity within tumors and ends up obscuring clinically significant information. This has led scientists to search for ways to assemble a census of the many types of cells that comprise a malignant tumor. Even better would be a more complete picture of how these cell populations evolve during the course of treatment. However, figuring out exactly how to conduct this survey has proven to be a major technical barrier for scientists.

But this hurdle, once thought to be nearly insurmountable, was recently cleared by a research team led by UC San Francisco and Chan Zuckerberg Biohub scientists. The researchers figured out how to assemble genetic profiles of individual lung cancer cells obtained from patients at different times during the course of their treatment. In doing so, they revealed a vast cornucopia of cellular diversity in both lung tumors and the tissue surrounding the tumor as they evolved during the course of treatment clinically significant information that had previously eluded scientists. The findings are detailed in a paper published Aug. 20 in the journal Cell.

This study is among the first of its kind, said Trever Bivona, MD, PhD, professor of medicine and senior author of the study. We observed features of lung cancer cells and the tumor microenvironment that no one had seen before. This gave us a window into the evolution of individual cells within the tumors ecosystem.

Starting with 49 biopsies obtained from 30 lung cancer patients, the researchers used single-cell sequencing to map the landscape of gene activity in over 23,000 individual lung cancer cells at three time points: before treatment, after the tumors stabilized or went into remission during treatment, and after the cancer, despite continuous treatment, had fully re-grown and become treatment resistant.

These single-cell profiles revealed the presence of tumor cells that harbored cancer-driving genetic mutations distinct from those that were identified by the various clinical tests that the patients received during the course of their treatment. Though these mutations were present in only a fraction of cells in each tumor, they had a significant effect on patient outcomes. Patients whose tumors carried two or more of these mutations had significantly lower overall survival rates than patients with fewer than two.

The researchers also found that when lung tumors stabilized or went into remission in response to treatment, some malignant cells were able to cling to life by switching on genes associated with injury repair and survival that are normally only active in healthy lung cells. When these genes are active, the cancer cells enter a repair and survival state that, according to Bivona, puts the cells into hibernation mode so that the cell death machinery doesnt get activated.

But these survival genes have an Achilles heel. They rely on whats known as the Wnt/beta-catenin signaling pathway, which can be targeted with existing drugs. In fact, laboratory tests demonstrated that when administered at the appropriate time, drugs targeting the Wnt/beta-catenin pathway, combined with a common lung cancer therapy, reduced the number of cancer cells that survived.

Our results suggest that we could target specific cell states in lung tumors and improve patient survival by constraining tumor evolution and preventing drug resistance and tumor survival and re-growth, Bivona said.

The study also provides key insights into how the cells and tissue that surround a lung malignancy the tumor microenvironment create conditions that prevent the immune system from taking up arms against the tumor.

Single-cell profiling revealed that the tumor microenvironment was hostile to immune activity both before treatment and after a tumor had evolved drug resistance. However, during treatment, when the cancer is in the hibernation mode revealed in the study, the researchers found that immune cells were able to infiltrate the tumor microenvironment and appeared to be switched on, suggesting there may be a limited window of opportunity during which conventional cancer therapies can be combined with immunotherapies a class of cancer treatments that has proven effective against some cancers, but has largely failed against the types of lung tumors profiled in this study to produce better overall survival rates.

Putting tumor heterogeneity front and center would better equip clinicians with information that allows for a high-resolution window into the evolution of tumors during therapy, and help us use such a roadmap to intervene more proactively to better control tumors and help patients, said Bivona. The single-cell analysis that we proved is feasible in real-life clinical tumors may help usher in a new era in the clinical management of tumors during therapy by strengthening our molecular diagnostic toolkit.

Authors: Additional authors include Caroline E. McCoach, Franziska Haderk, D. Lucas Kerr, Elizabeth A. Yu, Philippe Gui, Tasha Lea, Wei Wu, Anatoly Urisman, Kirk Jones, Pallav K. Kolli, Eric Seeley, Yaron Gesthalter, Sourav Bandyopadhyay, Khyati Shah, Lauren Cech, Nicholas J. Thomas, Anshal Gupta, Mayra Gonzalez, Hien Do, Lisa Tan, Bianca Bacaltos, Matthew Gubens, Thierry Jahan, Johannes R. Kratz, David Jablons, Jonathan Weissman, and Collin M. Blakely of UCSF; Ashley Maynard, Lincoln Harris, Weilun Tan, Alexander Zee, Michelle Tan, Rene Sit, Daniel D. Le, Kevin A. Yamauchi, Rafael Gomez-Sjoberg, Norma Neff, and Spyros Darmanis of Chan Zuckerberg Biohub; Julia K. Rotow of Dana-Farber Cancer Institute; and Erin L. Schenk, David M. Naeger and Robert C. Doebele of the University of Colorado.

Funding: This research was supported by NIH awards U54CA224081, R01CA204302, R01CA211052, R01CA231300, R01CA169338, U01CA217882, R01CA227807, T32 HL007185, and K12 CA086913; the Van Auken Foundation; Novartis Pharmaceuticals; Pfizer; the University of California Cancer League; AstraZeneca; The Damon Runyon Cancer Research Foundation award P0528804; Doris Duke Charitable Foundation award P2018110; V Foundation award P0530519l; and the Mildred Scheel postdoctoral fellowship from the German Cancer Aid.

Disclosures: See manuscript for a full list of disclosures.

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Mapping Genetic Diversity of Lung Tumors Over Time May Lead to More Effective Therapies - UCSF News Services

SPRINGFIELD - Dr. Nada Kawar, who represented her native Jordan in the shot put both at the 1996 and 2000 Olympic games, had plans to be an orthopedic surgeon.

However, a rotation in obstetrics and gynecology in her third year of medical school at Washington University in St. Louis, Missouri, changed her focus to womens health. She went on to a residency in obstetrics and gynecology at University of California San Francisco Medical Center and a fellowship in gynecologic oncology and breast surgery at Brown University/Women and Infants Hospital of Rhode Island that taught her how entwined breast and gynecologic cancers can be.

Her extensive training as a gynecologic oncologist she is board certified in obstetrics and gynecology and gynecologic oncology, and certified in breast disease as well as breast surgery and in the fundamentals of laparoscopic surgery qualifies her to both diagnose as well as provide surgical and medical treatment for womens cancers, including cancers of the breast, uterus, ovaries, cervix, vagina and vulva.

Kawar, who was an undergraduate at the University of California in Los Angeles when studies were emerging on inherited risks for womens cancers and how they can overlap, now practices at Mercy Medical Centers recently opened Center for Breast Health and Gynecologic Oncology, formerly its Breast Health Center, under Dr. James Frank, and feels very lucky to have the one-stop location adjacent to the Sister Caritas Cancer Center for her patients who sometimes have overlapping cancers.

This vision of seeing everyone in the same building, sharing resources, imagining my career in a different way - I am very lucky to be here, said Kawar, noting that inherited mutations in certain genes can put a small percentage of the population at risk for breast cancer as well as ovarian cancer and cancer of the endometrium-uterus.

I have already seen lots of patients who have both cancers of the breast as well as gynecologic. Here, they can come to one space, see one doctor or other doctors and do not have to go to other locations.

She sees such an approach where a physician like herself provides comprehensive care for female cancers in one location as all about womens cancer care.

Kawar added patients at the center have access to a genetics counselor who can help determine cancer risk based on inherited factors and treatment options that range from surgery to reduce such risk to minimally invasive surgeries as well as radical procedures for those with malignancies.

She said that as medicine evolved over the last century that there was this sort of arbitrary separation of breast surgery into the field of general surgery where gynecologic oncology evolved within a subspecialty of gynecology and obstetrics.

There was this separation and finally care of breast cancers separate from gynecologic and pelvic cancers, Kawar said.

Breast cancers are mostly uniquely female, although some men get breast cancer, it is a very much a womans cancer.

The greater prevalence of breast cancer and the growing number of disease survivors, Kawar added, has helped generated much greater publicity and funding around it than cancers of the reproductive organs that are much less common though can be related.

Kawar said patients are most often referred to her by their gynecologist after an imaging study indicating a tumor or some other abnormality.

She said the most common gynecologic cancers she sees in patients are uterine cancer, which is often found early due to abnormal bleeding or pain and has a high five-year survival rate when detected in the localized state; ovarian cancer which she termed much more deadly as it is often detected when the disease is more advanced; and cervical cancer that is often caused by exposure to certain strains of the human papillomavirus and for which there is now a vaccine to help prevent.

Screening for cervical cancer can be done by the HPV or Pap test and the five-year survival rate is very high when detected at the localized stage.

Risk factors for uterine or endometrial cancer, Kawar said, include metabolic syndrome, whose conditions include high blood pressure, obesity and diabetes, but just how this syndrome contributes to the development of the cancer is unknown.

She said too much of the hormone estrogen without the presence of progesterone can also pose a risk.

Kawar said hereditary breast and ovarian cancer syndrome, often related to certain mutations in the BRCA1 or the BRCA2 gene, can elevate an individuals risk for both as well as other cancers.

She noted that there is no good screening test for ovarian cancer and one recommendation for women with a known inherited risk for the disease is risk-reducing surgery to remove the Fallopian tubes and ovaries after child bearing years.

She added, The symptoms of ovarian cancer are normally very vague - urinary symptoms like urgency or frequency, abdominal pain, feeling full quickly - these usually cause women to ultimately seek care and are often have their symptoms mistaken for stomach problems or indigestion and with a diagnosis of ovarian cancer quite late because of that.

Anyone with a strong family history of breast or ovarian cancers should seek genetic counseling and possibly genetic testing because that is one way to become aware of the risk for ovarian cancer, Kawar said.

Other risk factors include infertility - not being able to bear children - and age. It normally affects women age 60 and above.

Kawar said not all women referred to the center end up being treated for a malignant condition, but surgery is sometimes needed because of a concern for cancer.

When a woman is referred to me with a pelvic mass found on imaging, I will talk about the possibility of cancer with the goal of surgery to remove the mass and determine diagnosis and if it is cancer, to recommend the appropriate treatment which may include more extensive surgery or chemotherapy, Kawar said.

I often treat women for endometriosis which is a benign condition but can mimic cancer in the problems it causes and might require a large-scale surgical approach. I often see women for uterine bleeding that may end up being polyps and not necessarily cancer.

Kawar noted that this is Gynecological Cancer Awareness Month, and next month brings Breast Cancer Awareness Month.

September brings awareness of all the problems of the gynecologic cancers and the importance to survival of catching them early, Kawar said.

With a lot of emphasis on breast cancer in October.

The American Cancer Society estimates this year that 42,170 women will die of breast cancer, and some 33,602 will die of cancers of the genital system.

These include 13,940 of ovarian cancer, 12,590 of uterine cancer, 4,290 of cervical cancer, 1,350 of vulva cancer and 1,450 of vaginal and related cancers.

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Mercy Medicals new Center for Breast Health, Gynecologic Oncology is all about womens cancer care - masslive.com

DUBLIN, Sept. 2, 2020 /PRNewswire/ -- The "RNA-interference (RNAi) Market - Growth, Trends, and Forecast (2020 - 2025)" report has been added to ResearchAndMarkets.com's offering.

The RNA-interference (RNAi) market is expected to witness a CAGR of 10.12% during the forecast period. Certain factors that are driving the market growth include the increasing number of applications in molecular diagnostics, particularly in cancer and improving synthetic delivery carriers and chemical modifications to RNA.

Cancer diagnosis and treatment is currently undergoing a shift with the incorporation of RNAi techniques in personalized medicine and molecular diagnostics. The availability of high throughput techniques for the identification of altered cellular molecules and metabolites allows the use of RNAi techniques in various cancer diagnosis and targeting approaches. For diagnostic purposes, small interfering RNAs (siRNA) or microRNAs (miRNA) can be utilized. The commercial availability of siRNAs to silence virtually any gene in the human genome is dramatically accelerating the pace of molecular diagnosis and biomedical research. Thus, increasing the application of RNAi in molecular diagnosis and its viability as a therapeutic technique is expected to drive the growth of the RNAi market during the forecast period.

However, in recent years, there has been a decline in FDA drug approval rates. Getting FDA approval for a new drug has become extremely challenging. It approved less than half the number of new drugs in 2016 (19 so far) when compared to 2015 (45 total) and 2014 (41 total). Hence, despite the large investments, there has been a decline in the number of innovative drugs manufactured. FDA explains manufacturing standards and other complying issues as the major reasons for this declining trend. This can impede the growth of the RNAi therapeutics, especially since the miRNAs and siRNAs fall into the relatively new field of genetic medicine, wherein they may require more intensified clinical trials. The highly extensive clinical trials effectively result in low approval rates of drugs. This would mean that the stringent guidelines will be a major restraint for the growth of the market.

Key Market Trends

Oncology is Expected to Hold Significant Market Share in the Therapeutics Type

According to the World Health Organization, cancer is the second leading cause of death globally and is responsible for an estimated 9.6 million deaths in 2018. Globally, about 1 in 6 deaths is due to cancer. The number of new cases is expected to rise by about 70% over the next two decades.

Recent advancements, such as the development of small interfering RNA (siRNA) tolerant to nucleases and the development of non-viral vectors, such as cationic liposomes and nanoparticles, can overcome this obstacle and facilitate the clinical use of RNAi-based therapeutics in the treatment of cancer.

Substantial pipeline for cancer therapies by companies and institutes such as Enzon Pharmaceuticals (Santaris Pharma), University of Texas, OncoGenex, Isarna Therapeutics, Astrazeneca (Ionis Pharmaceuticals), and INSYS Therapeutics, Inc. are expected to drive the market. In addition, many companies have invested in R&D for nanocarriers to deliver oligonucleotides for cancer treatment, which is expected to contribute to the oncology verticle.

North America Dominates the Market and Expected to do the Same in the Forecast Period

The U.S. has a number of RNAi therapeutics that are in developmental pipelines. A number of biotechnology companies have made considerably high investments for RNAi therapeutic development. Big pharmaceutical developers have entered into collaboration agreements or licensing deals with a number of smaller firms in an attempt to capitalize on the expected growth in revenue that this market can have over the forecast period. For instance, AstraZeneca's agreement with Ionis pharmaceuticals is one of the big deals that are investing heavily into RNA-interference technology

Key Topics Covered:

1 INTRODUCTION

2 RESEARCH METHODOLOGY

3 EXECUTIVE SUMMARY

4 MARKET DYNAMICS4.1 Market Overview4.2 Market Drivers4.2.1 Increasing Number of Applications in Molecular Diagnostics, Particularly in Cancer4.2.2 Improving Synthetic Delivery Carriers and Chemical Modifications to RNA4.3 Market Restraints4.3.1 Stringent FDA Regulations and Changing Reimbursement Environment4.3.2 Unstable Potentially Immunogenic Nature of RNA4.4 Porter's Five Forces Analysis4.4.1 Threat of New Entrants4.4.2 Bargaining Power of Buyers/Consumers4.4.3 Bargaining Power of Suppliers4.4.4 Threat of Substitute Products4.4.5 Intensity of Competitive Rivalry

5 MARKET SEGMENTATION5.1 Application5.2 Geography

6 COMPETITIVE LANDSCAPE6.1 Company Profiles6.1.1 Alnylam Pharmaceuticals6.1.2 Arcturus Therapeutics6.1.3 Arrowhead6.1.4 Dicerna Pharmaceuticals6.1.5 Quark Pharmaceuticals Inc.6.1.6 Ionis Pharmaceuticals Inc.6.1.7 Merck & Co. Inc. (Sigma Aldrich)6.1.8 Silence Therapeutics PLC6.1.9 Qiagen NV6.1.10 Phio Pharmaceuticals Corp.6.1.11 Thermo Fisher Scientific Inc.

7 MARKET OPPORTUNITIES AND FUTURE TRENDS

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Global RNA-interference (RNAi) Market Growth, Trends and Forecasts to 2025: Focus on Key Players Alnylam Pharmaceuticals, Arrowhead, Quark...

Hyperthyroidism is associated with breast cancer risk and mammographic and genetic risk predictors

1. Hyperthyroidism was associated with a higher rate of breast cancer among women.

2. Risk was particularly elevated for those with toxic nodular goiter.

Evidence Rating Level: 2 (Good)

Breast cancer is the most common cancer among women across the world as well as the leading cause of death among women. While much is known about the roles of thyroid hormones in cell proliferation within breast tissue, less is known about the relationship between hyperthyroidism and mammographic features of breast tissue. This national cohort study of women over the age of 20 years in Sweden (n = 3,793,492) included individuals assessed between 2002 and 2011 and sought to investigate the odds ratios of hyperthyroidism based on mammographic and genetic risk predictors. Participants had a main diagnosis of hyperthyroidism and follow-ups ended at breast cancer diagnosis, death, emigration, or final follow-up. Another 68,598 participants joined the Karolinska Mammography Project for Risk Prediction of Breast Cancer (KARMA, 2002-2017) for genotyping, with blood samples being obtained from a subset of 11,991 women who did not have breast cancer when they joined. Findings suggested an increase in breast cancer among patients with hyperthyroidism (incidence rate ratio [IRR] = 1.23, 95% CI 1.12 to 1.36), which was higher for toxic nodular goiter (IRR = 1.38, 95% CI 1.16 to 1.63). Hyperthyroidism was also associated with lower breastfeeding duration, higher body mass index, and early age at first birth. Higher mammographic density was found in women with toxic nodular goiter compared to those without hyperthyroidism. Among those in the KARMA group, hyperthyroidism was associated with a higher polygenic risk score overall (OR = 1.98, 95% CI 1.04 to 3.43) and estrogen receptor-positive specific PRS (OR = 1.90, 95% CI 1.04 to 3.43). Overall, this study found that hyperthyroidism was associated with an increased risk of breast cancer, with particular risk being among those with toxic nodular goiter. Further studies may explore mammographic density and genetic variants of these conditions.

Image: PD

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Weight-shaming, or explicit bias towards people with obesity, has significantly reduced in the United States over the past 3 years, suggesting wider acceptance of obesity as a medical problem, according to a new survey conducted in the United States and UK.

However, the US finding is in stark contrast to the UK, where the survey suggests the general public continues to attribute blame to people with obesity.

Exploring attitudes towards weight was the topic addressed by the survey conducted in both countries over the last 3 years.

"This finding is important because it highlights that, in the United States at least, obesity is increasingly considered a medical condition and not a personal failure," said Ted Kyle, MBA, founder of ConscienHealth, an advocacy organization in Pittsburgh, Pennsylvania, who led the work.

He presented the findings as a poster at this year's virtual European and International Congress on Obesity(ECOICO 2020).

The survey shows nearly one in three UK adultsblame people with obesity for their condition and do not believe obesity is a medical problem.

In contrast, over the past 3 years in the United States there has been a 12% increase in respondents who believe obesity is a medical problem. The difference between the two countries was statistically significant.

"There are multiple reasons for this change including that in the US, the fastest growing medical specialty is obesity medicine; the science of obesity has progressed; and culturally, the noise level about so-called 'fat-shaming' as being morally and socially wrong has increased," said Kyle.

"But by no means is the problem solved," he added. "There's still a lot of bias and remember this refers to explicit bias that expressed, which is very different to implicit bias that is internalized and influences a decision before you are aware of it."

Stuart Flint, PhD, associate professor of the psychology of obesity at the University of Leeds, UK, had this to say: "The decline in weight stigma in the US is much needed and encouraging."

But, he told Medscape Medical News, it is important to learn why these changes in attitudes have occurred in the United States to try to disseminate these positive opinions more widely.

"Considering that weight stigma is so perceptive, and in some instances encouraged, this study shows that greater efforts are needed to reduce weight stigma that is high in the UK," he asserted.

Previous research by Kyle (Obes Facts. 2018;11:1-364. Abstract S1.3) suggests thatexplicit weight bias is more common in the UK than in eight other countries including the United States, and that those harsh British attitudes to obesity are hampering efforts to tackle the obesity epidemic. "Reducing weight stigma has been identified as a key target by, for instance, the UK Obesity Policy Engagement Network and the All-Party Parliamentary Group on obesity," added Flint.

"Greater efforts are warranted and required at all levels including policy, health care, and within the community."

The researchers analyzed the responses from a random sample of 6082 adults from the US and UK,half of whom completed ananonymous online Google survey in November 2017 and the other half in May 2020.

The survey asked participants for their opinion ononeof three different statements using a five-point Likert scale (strongly agree to strongly disagree): 1) that obesity is the fault of the person with obesity; 2) that it is not their fault; or 3) that obesity is a major problem because people with obesity are blamed for the disease instead of receiving needed medical help. The results were adjusted for gender, age, country, and year.

In the United States, results showed a considerable drop in the proportion of respondents who agree that obesity is the fault of people with obesity, from 31% (115/372) in 2017 to 25% (93/377) in 2020 (P = .10). By comparison, UK respondents showed a smaller drop from 34% to 30% for the same question (P = .28).

Turning the question around so asking if the respondent thought obesity was not the fault of the person with obesity showed a rise in the proportion of US respondents agreeing with this statement from 11% to 16% (P = .17) between the two time points. But in the UK, there was an insignificant change from 16% to 15% (P = .31).

A significant change was also seen when American respondents were asked whether they agreed with a medical explanation for obesity. US respondents were much more likely to agree with this than those from the UK.

The percentage of US respondents in agreement rose from 30% to 42% between 2017 and 2020 (P = .002), but among UK respondents, that percentage remained unchanged at 31% (P = .8).

In 2018, the Royal College of Physicians in the UK called for obesity to be urgently recognized as a disease by government and the broader health sector, warning that until this happens its prevalence is unlikely to be reduced.

"There was some considerable backlash to this," noted Kyle.

"In the UK, for some people, there just seems to be a stronger impulse to blame people with obesity. It takes time for sentiment to shift on something that's so deeply held," he added.

"In the US where obesity is more common than in the UK it might make it harder to vilify obesity if over 40% of the population have it."

Kyle explained that by weight-shaming and implying people make bad choices or are somehow defective, "People turn in on themselves and they start believing the bad things people say about them. This is internalized stigma and this is known to predict worse medical outcomes."

Kyle also highlighted that obesity is genetic in origin but that the obesogenic environment plays a large part in people becoming obese.

"We can make a choice about how we are going to cope with a bad set of genes or a hostile environment, but we can't make a choice about susceptibility to obesity in our genes."

ECOICO 2020. Presented September 1, 2020. Abstract 1150/LBP-126.

Kyle is a board member for the Obesity Action Coalition. Flint has reported no relevant financial relationships.

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'Fat-Shaming' Drops in US but UK Public Still Apportion Blame - Medscape

The most common genetic cause of alterations in pediatric patients with papillary thyroid cancer (PTC) were fusion genes, which were associated with more aggressive disease, according to a study published in Thyroid.

In this study, several novel rearrangements were identified, and the fusion genes seemed to be a molecular marker number one in this patient population.

Overall, the study included 93 pediatric patients who had undergone thyroid surgery between 2003 and 2019 at the Department of Ear, Nose, and Throat, Second Faculty Medicine, Charles University, and Motol University Hospital in Prague. The mean age of patients at diagnosis was 14.5 3.4 years, and the female to male ratio was 2.6 to 1. Eighty-two patients had a total thyroidectomy and 11 had a subtotal thyroidectomy, where 10 were completed to total thyroidectomy.

The mean tumor size was 22.1 13.7 mm, and the investigators noted that 17 patients had microcarcinoma. Twenty-six patients (29.9%) had PTC of classical variant, 20 (23.0%) had classical and follicular variant, 29 (33.3%) had follicular variant, 3 (3.4%) had solid variant, 3 (3.4%) had a mixture of classical/follicular/solid variant, 2 (2.3%) had diffuse sclerosing variant, 2 (2.3%) had columnar variant, 1 (1.1%) had tall cell variant, and 1 (1.1%) had case clear cell variant.

After a median follow-up was 72 months (range, 2-198), 11 (19.3%) patients had persistent or recurrent disease at least 1 year after surgery or patients who were in remission and later had a malignant object thyroid tissue formed. Sixteen (19.3%) patients only had biochemical evidence of persistent disease, while 56 (67.5%) remained in remission with no evidence of disease. One patient died due to advanced disease. Additionally, 10 patients were not classified because of short-term follow-up, 84 received radioactive iodine (RAI) treatment, and 8 did not receive RAI because of low-risk disease.

More than half (55.9%) of the patients had fusion genes, which included RET, NTRK1, NTRK3, ALK, BRAF, and MET. Additionally, 10 different types of RET fusions were observed in 26 patients, 4 types of NTRK3fusions in 14 patients, 1 ALK fusion in 6 patients, 2 types of NTRK1 fusions in 3 patients, 2 types of BRAFfusions in 2 patients, and 1 type of MET fusions in 1 patient. Overall, 20 types of fusion genes were identified in the study, 11 of which were interchromosomal and 9 were intrachromosomal rearrangements.

Investigators detected 2 co-existing RET fusions in 1 PTC nodule, which included ACBD5/RET fusion with juxtaposition of exon 11 of the ACBD5 gene and exon 12 of RET gene in the first and BBIP1/RET fusion with a juxtaposition of exon 1 of the BBIP1 gene and exon 8 of the RET gene. CCDC6/RET rearrangement was the most common fusion gene, which was observed in 13 patients (14%), while 1 of these patients had a novel isoform including a part of exon 9 of RET gene. Other rearrangements that were observed more commonly included ETV6/NTRK3 in 10 patients (10.8%), NCOA4/RET, and STRN/ALK both in 6 patients (6.5%) and RBPMS/NTRK3 found in 2 patients (2.2%). The remaining fusions were not recurrent.

BRAF fusions with partner genes, CUL1, and OPTN were reciprocal, and the IRF2BP2/NTRK1 fusion gene has 2 isoforms, 1 being a fusion of exon 1 and the second of exon 2 of the IRF2BP2 gene with exon 10 of the NTRK1 gene. Every isoform was found in a different patient, and no patients with fusion genes had a prior history of radiation exposure before their PTC diagnosis.

The investigators also compared the samples positive for the fusion gene to those that did not harbor this mutation. Positive samples were associated significantly with the mixture of classical and follicular types of PTC (P =.025), and the fusion-positive samples were also significantly associated with extrathyroidal extension (P <.001), higher T classification (P =.009), lymph node metastases (P <.001), distant metastases (P =.021), chronic lymphocytic thyroiditis (P =.001), and frequent occurrence of psammoma bodies (P =.004). Patients who were positive for the fusion gene has also received more frequent multiple doses of RAI therapy (P=.008). Borderline statistically significant associations were observed for features such as tumor size larger in fusion gene-positive tumors (P =.057), number of microcarcinomas higher in fusion gene-negative tumors (P=.052), and a higher number of patients who were not given RAI treatment (P =.058).

Samples that were positive for the fusion genes were different from each other as well, according to the fused oncogene involved. A statistical analysis was only able to be performed between RET and NTRK3 fusion gene-positive samples because of the low number of samples in the other fusion groups. RET fusions were significantly associated with lower mean age of patients at diagnosis (P =.035), lymph node metastases (P =.033), distant metastases (P =.020), and frequent occurrence of psammoma bodies (P =.006). The NTRK3fusions were significantly associated with follicular variant PTC (P =.013).

In RET fusion gene-positive group, 11 patients (42.3%) were of prepubertal age (up to age 12) compared with only 1 patient (7.1%) in the NTRK3 fusion-positive group (P =.021).

All patients with distant metastases (n = 10) had the genetic cause of PTC detected, which was HRAS Q61R point mutation in 1 patient, NCOA4/RET in 4, CCDC6/RET in 2, RASAL2/RET in 1, EML4/MET in 1, and co-occurrence of ACBD5/RET with BBIP1/RET in 1.

Point mutations in BRAF, HRAS, KRAS, NRAS, and TERT genes were assessed in all patients, in which 18 (19%) had the BRAF V600E mutation, and the HRAS Q61R and NRAS Q61K was found in 1 patient each. No mutations were found in the KRAS gene or in the promoter region of TERT. Patients with HRAS-positive PTC (n = 1) underwent radiation treatment for Hodgkins lymphoma. The co-occurrence of fusion gene and somatic point alternation was not identified in the study.

These findings demonstrated a point mutation or fusion gene was observed in 72 pediatric patients (77.4%) with PTC, and the oncogenic alteration was unidentified in 21 patients (22.6%). Most tumors were follicular variants of PTC and T1/T2 classification predominated the tumor samples in this study. No patients had experienced recurrence or persistence of structural disease, but 1 patient had biochemical persistence of their disease while almost all of the other patients remained in remission.

Overall, this study demonstrated that fusion genes occurred in 56% of pediatric patients with PTC, and point mutations in the BRAF and RAS genes were observed in 77% of patients. Patients who harbored a fusion gene had more aggressive forms of the disease, which included more frequent extrathyroidal extension, lymph node metastases, distant metastases, and consequently had received more doses of RAI than those without the fusion gene mutations.

Reference

Pekova B, Sykorova V, Dvorakova S, et al.RET, NTRK, ALK, BRAF,andMETfusions in a large cohort of pediatric papillary thyroid carcinomas.Thyroid.Published Online July 1, 2020. doi: 10.1089/thy.2019.0802

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Fusion Genes Associated With More Aggressive Papillary Thyroid Cancer in Pediatric Patients - Targeted Oncology

In the past, in order to get tumor cells from a patient, a doctor had to do surgery or biopsy. Now a nurse draws blood from the arm, like what happens in a routine blood test. (Sept. 2017) Video Elephant

Cancer patients often have to endure months of anxiety and side effects before they can schedule a scan or painful biopsy to learn if their treatment is working.

Liquid biopsy tests, which have won federal approval in recent weeks, could make that process faster and less miserable.

The Food and Drug Administration approved Guardant360 CDxin early August for use in a range of solid tumors; Foundation Medicine's FoundationOne Liquid CDx, became available for widespread use as of late last month.

The tests aren't brand new, but the federal approvals will make them more accessible, as Medicare and more insurance companies cover the costs, which can run as much as $6,000.

"I think that liquid biopsies now are coming into their own," said Dr. Matthew Freedman, an oncologist and researcher at the Dana-Farber Cancer Institute in Boston.

The newly approved liquid biopsies can identify the genetic signature of tumors, which then can be used to match patients to treatments or research trials with experimental therapies.

Lung cancer patients who have certain genetic mutations in their tumors, for instance, can double or triple their life expectancy when given a drug targeted to those mutations.

Doctors can also use liquid biopsies a few weeks after starting treatment to see how a tumor is evolving, and perhaps gain insights into why a treatment isn't working, said Helmy Eltoukhy, CEO of Guardant Health, of Redwood City, California, which makes Guardant360 CDx.

"It's better care for patients at lower cost if you test appropriately," he said.

Today, many cancer patients, particularly those with hard-to-reach tumors, get one biopsy with all future treatment decisions based on that one sample. But tumors change over time. "There's almost no other area of medicine where you'd use an old clinical specimen to decide treatment," Eltoukhy said.

Because blood is so easy to access, a liquid biopsy can be done several times to see how the tumor evolves, he said. And patients who live far from an academic medical center can still get cutting-edge recommendations without traveling.

So-called liquid biopsies, recently approved by the FDA, may make it easier for oncologists to track their patients' cancers.(Photo: Guardant Health)

Liquid biopsies are generally seen as not as precise as more typical biopsies, where a needle is inserted directly into a solid tumor. "If one had a choice, the choice would be to look at the biopsies," said Dr. Bert Vogelstein, who has spent years developing liquid biopsy tests as a professor at Johns Hopkins University in Baltimore.

But with some cancers, it's not easy to access the tumor, or there's very little cancerous material that can be withdrawn or seen.

As a tumor begins to spread its tentacles,it's initially invisible on scans. And after successful surgery, there may be no obvious tumor, but residual disease could still be lurking.

Liquid biopsies can fill those crucial gaps.

Scientific advances in recent years have made it possible to identify cancer DNA in the bloodstream tiny needles in the haystack of the bloodstream.

This opens up a lot of possibilities for treatment and diagnosis, Vogelstein said.

Guardant Health is one of two companies that recently received approval for its liquid biopsy tests, intended to make it easier to track cancers.(Photo: Guardant Health)

In colon cancer, for instance, roughly half of Stage 3 patients who otherwise would die can be cured with so-called adjuvant therapy, Vogelstein said. But nearly everyone who has enough metastatic cancer to be visible on an X-ray will die from their disease. "You cure close to 0% with adjuvant therapy," he said.

Adjuvant therapy is terribly toxic, though, so doctors don't want to use it unless they believe the patient is likely to have metastatic disease.

"So, this is a decision that virtually every patient goes through: Should I undergo adjuvant therapy?" said Vogelstein.

Until now, they've only beenable to guess and play the odds. But early research suggests using liquid biopsy to identify if there's residual diseasecan help make that decision easier, Vogelstein said.

Although studies proving the clinical usefulness of liquid biopsies have yet to be completed, he added, "Patients with positive liquid biopsies after surgery nearly always recur, and many that don't have positive liquid biopsy tests don't recur."

Dr. Neal Shore, medical director of the Carolina Urologic Research Center in Myrtle Beach, South Carolina, said he uses liquid biopsies to help him find clinical trials for patients with advanced cancer.

One patient, who only wanted to be identified by his first name, Joel, has been on a clinical trial of a double-drug therapy for two years, after a liquid biopsy identified a genetic mutation in his advanced prostate cancer.

"He looks great," Shore said on a call with Joel and his wife Tracey. "He's done exceptionally well."

Joel said the treatment has been challenging at times. He has trouble swallowing some days, suffers from back pain, and the hormone therapy he still takes gives him hot flashes.

But his wife said his issues are largely manageable with Tylenol and heating pads. "For the most part, he feels pretty good," she said.

Shore, who treats patients with kidney, bladder and prostate cancers, said liquid biopsies are particularly useful when a tissue sample is old or unusable.

"It expands our treatment armamentarium," he said. "This is really exciting for me as a urologist."

The next step, said Cindy Perettie, CEO of Cambridge, Massachusetts-based Foundation Medicine, will be to use liquid biopsies early in the course of someone's treatment.

"We're really focused on taking it from the metastatic setting and moving it to the early setting," she said. "That's where we're going to have the opportunity to really impact (patients)."

Breast cancer patients on maintenance therapy with tamoxifen, for instance, usually have to wait five years to know if their cancer has advanced, she said, but a liquid biopsy could let them know much faster and more often.

"We can look every six months whether they've progressed or not," Perettie said.

Even further into the future, the real potential for liquid biopsies lies in early detection.

For kidney cancer, as well as many other tumors, the earlier the diagnosis, the better the chance of survival, said Freedman of Dana-Farber. He, along with colleagues including Dr. Toni Choueiri, showed in a paper published earlier this summerthey could identify kidney cancer cells in urine at all stages of disease.

If such tumors could be identified when they're just beginning, the prognosis for kidney cancer would vastly improve.

"You want to cure cancer. You don't cure it with third-line chemo. You want to cure it before it happens," Choueiri said.

Today, about 20% of cancers are diagnosed via screening tools like mammography, colonoscopies or stool-based tests. Add liquid biopsies and that figure could jump to 75%. "I think that will be possible within five years or so," said Vogelstein, who is involved in a company, Thrive Earlier Detection, based in Cambridge, Massachusetts, that is working on such a test.

The challenge: the smaller the tumor, the less DNA released from the cancer cells, so the harder it is to detect.

Metastatic cancers that have spread throughout the body might account for 5-10% of the DNA floating in the bloodstream; but DNA from very early tumors may make up just 1-in-10,000 or 1-in-100,000 DNA molecules in blood, Vogelstein said.

Studies have shown it's feasible to find these few needles in a haystackbut not whether it's useful to doctors or patients.

There is also a risk to using liquid biopsies as a screening tool for early tumors, Vogelstein warned. False positives telling people they have cancer when they don't could do a lot of harm.

And a liquid biopsy can only say there's a high likelihood someone has cancer somewhere and that further testing is warranted, he said. Sometimes, something might look like cancer on a CT scan, but it isn't.

"It is essential," he said, "to show that the benefits of early detection outweigh the risks."

Contact Karen Weintraub at kweintraub@usatoday.com

Health and patient safety coverage at USA TODAY is made possible in part by a grant from the Masimo Foundation for Ethics, Innovation and Competition in Healthcare. The Masimo Foundation does not provide editorial input.

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'Coming into their own': FDA approval of liquid biopsy tests puts early, less invasive cancer detection in broader reach - USA TODAY

Obtaining sufficient tumour tissue for oncology testing can be challenging, particularly when there is an insufficient biopsy sample, and invasive procedures pose a health risk to the patients. This is especially true for non-small cell lung carcinoma (NSCLC), where 27%31% of patients are unable to provide a suitable specimen upon diagnosis. One area of active research in oncology testing has been the evaluation of alternative sources of testing material. Liquid biopsy refers to the analysis of any tumour-derived material, circulating in the blood or any other body fluid. The detection of mutations via circulating tumour DNA (ctDNA) found in plasma has been rising in popularity due to its minimal invasiveness.

On 7 August, Guardant Health announced the Food and Drug Administration (FDA) approval of its novel liquid biopsy comprehensive tumour mutation profiling test across all solid cancers. This is a landmark approval for cancer testing as Guardant Healths liquid biopsy is the first of its kind to genetically profile tumours anywhere in the body from a single blood draw. The FDA approval of this test includes its approval as a companion diagnostic for identifying patients with metastatic NSCLC based on the presence of mutations in the EGFR gene. Lung cancer is the current leading cause of cancer-related deaths worldwide with NSCLC comprising 80%90% of all lung cancers. As such, the need for this test is very high.

On 27 August, Foundation Medicine, a Roche company, received FDA approval for its FoundationOne Liquid CDx, a multi-cancer comprehensive liquid biopsy test. Foundation Medicines test is broader than Guardant Healths, covering more than 300 cancer-related genes. In addition to single-gene alterations, Foundation Medicines test also reports on the presence of multi-gene signatures namely microsatellite instability and blood tumour mutational burden, which can help guide the use of cancer immunotherapies.

The genomic analysis of ctDNA has the potential to offer insight across multiple metastatic sites. This is particularly valuable in settings with increased genomic heterogeneity such as in patients with treatment resistance. Some key opinion leaders (KOLs) interviewed by GlobalData have indicated that despite the fact that the test has some sensitivity issues, liquid biopsies are a cheaper alternative and the minimally invasive aspect of the technique improves patient satisfaction. Other KOLs noted the potential for liquid biopsies to integrate the overall cancer burden in patients with numerous metastases in different locations. GlobalData predicts an increased usage of liquid biopsies in the future due to the benefits they offer patients with metastatic recurrence.

Liquid biopsy is revolutionising cancer tests as it is non-invasive, precise and provides faster turnaround time for results compared to traditional solid tumour biopsy. While DNA sequencing methods such as Sanger sequencing have been considered the gold standard for detecting many genetic mutations associated with cancer, these techniques have lower sensitivity, and thus, require samples with a higher percentage of mutated DNA. As such, the use of ctDNA will be important for detecting cancerous mutations where tumours are hard to resect. Furthermore, the use of highly sensitive assays such as next-generation sequencing (NGS) will aid in the detection of cancerous mutations. As sequencing technology like NGS becomes more developed and its costs decrease, GlobalData expects these techniques to be more frequently used to test for mutations in cancer.

GlobalData is this websites parent business intelligence company.

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Liquid biopsies to disrupt the oncology testing market - Medical Device Network