Category Archives: Genetic medicine

Battling an extremely aggressive prostate cancer and running out of options, Bryce Olson could have done what many patients do: ask his oncologists advice.

Had he done so, Olson says he would probably be dead by now. Hed likely have received more harsh chemotherapy, which is less effective with each cancer recurrence.

Instead, Olson looked to the frontiers of medicine for experimental treatments that precisely fit his diseases genetic profile, a field known as precision medicine. By choosing this path, Olson estimates he has gained at least two years of life.

Olson and other patients told their stories about what precision medicine did for them at a panel discussion during a recent conference on the subject in downtown San Diego.

Their message is that patients with life-threatening diseases need to take charge of their treatment; not necessarily to oppose their doctors, but to participate as equals.

And as patients who have benefited from precision medicine tell their stories, they say, other patients are going to follow suit.

Olson, global marketing director of the health and life sciences group at chip-maker Intel Corp., looked at his disease with the attitude of a technologist.

He successfully lobbied to have his genome sequenced, which yielded the information needed to qualify him for a clinical trial of an experimental drug. The genome is the complete set of DNA in an organism, containing all hereditary information.

Olson went so far as to confer with a pathologist, who normally reports to the oncologist, not the patient. This irregular procedure made the pathologist uncomfortable, Olson said, but enabled him to actively advocate on his own behalf.

The drug itself failed the clinical trial. But Olson was able to get the remaining drug supply routed to him, because he had genetic biomarkers that indicated the drug helped him, and he didnt suffer the heart toxicity that affected other patients.

In effect, Olson was able to turn himself into a one-man clinical trial.

Now Olson is looking for the next experimental therapy to try.

I wouldnt be here today if I hadnt partnered with research, Olson said. And I dont want to veer from that path ever again, because imprecision medicine kinda sucks.

Nicholas Volker became famous as the first person whose life was saved through genome sequencing. As a child, he was diagnosed with a genetically caused intestinal disorder, leading to a successful umbilical cord blood transplant.

Amylynne Santiago Volker, Nicholas mother, told his story at the panel. It was a long process mostly filled with unanswered questions and urgent medical procedures, she said.

My son Nic has had 172 surgeries, he wasnt able to eat for three years He weighed 17 pounds at age 4 in 2009, she said. He had his entire colon removed in April of 2009.

After that operation, his parents decided to search his genome for a genetic cause. Scientists sequenced the small part of the genome that contains genes that code for proteins, known as the exome.

What they found from the sequencing was XIAP, which is a one-in-a-billion mutation, Volker said. He also had a rare disease, called XLP. Thirty days after transplant he got encephalitis, he developed intractable seizures.

The good news is that after these ordeals, Nicholas is not only alive, but out of the hospital, and learning to socialize with other children.

Genome sequencing such as that done for Nicholas has become far more common, and far less expensive, than in 2009. Its now routinely performed at health care centers such as Rady Childrens Hospital in San Diego.

But much of the public has no idea about the power of the new genetic tools that can help doctors make better-informed choices, Volker said.

To spread that story further, pay for Nics care, and others in his situation, Volker has established the One in a Billion Foundation. Ultimately, the foundation aims to make genome sequencing a standard of pediatric care, and available to every child in need, worldwide.

The foundation can be reached at http://www.oneinabillionic.com.

Panel moderator Hudson Freeze has been advocating for precision medicine for many years.

Director of the human genetics program at Sanford Burnham Prebys Medical Discovery Institute, he studies rare diseases involving a process called glycosylation, or putting sugar molecules on proteins.

These are the kinds of exotic diseases that doctors usually treat with imprecision medicine, if theyve even heard of them. Patients may travel around the country, or even internationally, in search of a specialist.

Every year, Sanford Burnham Prebys sponsors a conference on glycosylation-related diseases, bringing together academic researchers, doctors and those with the diseases. The next one is scheduled for Feb. 23-25. Go online to j.mp/glycosy for more information.

Glycobiology is this dark matter. Not many people know about it, Freeze said. The ability of scientists to come forward and be in a good relationship with patients and physicians is critically important.

Freeze discovered the limits of imprecision medicine early in life. His sister, Jackie, is profoundly mentally disabled, with a mind of roughly a year-old infant. She is 65 years old.

Unlike prostate cancer patient Olson, Jackie wasnt offered an inadequate treatment, Freeze said in a post-panel interview. She wasnt offered anything at all.

About a year after she was born, Jackie began failing her developmental milestones. Freeze was about 5 when the family drove from their home in Garrett, Ind., to the big city, Chicago, to see a specialist.

So we go out to see this physician, and after some time we will never forget this quote she said, Well, there is no place for this child, Freeze said. And we drove back 150 miles in complete silence.

Jackie has some understanding of what people say, but she cant talk herself. She does recognize and responds to people. To demonstrate, Freeze took out his smartphone and called Jackies caregiver for a video conference.

Hi sweetie, Freeze said, pointing to Jackies face on the smartphone. Jackie, how are you?

She's smiling, Freeze said. She's gone try to kiss the phone. That's usually what she does.

After a few more minutes, Freeze says goodbye and ends the call.

Freeze, a regular nerd in high school, said Jackies condition didnt cause him to enter rare disease research, but after he became interested in biology, he saw the connection.

That interest led him to meet with families with children like Jackie.

So I came into this meeting and here all these kids who were a lot like my sister, and I just felt so at home, Freeze said. It was all so normal. Everything just fit.

To help people like Olson and Jackie, people from different fields need to collaborate more with each other, he said.

It's going to be a matter of getting scientists and physicians educated, and scientists to get out of their comfort zone and just talk to people, Freeze said.

When patients find they have options and can choose among them, they get more personally involved in their care, said Olson,

If you just get thrown into the one-size-fits-all treatment plan, I think you lose your engagement pretty quickly, Olson said.

It wasnt until I got my molecular diagnosis, when I got something that was personalized and precise, all of a sudden my engagement went like this, he said, gesturing upward.

When the doctor has no answers

One of a Kind

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Even more money for historic push to customize fight against diseases

bradley.fikes@sduniontribune.com

(619) 293-1020

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Faced with life-threatening diseases, patients take over - The San Diego Union-Tribune

A team of UC San Francisco researchers will receive $11.7 million over four years from the National Institutes of Health (NIH) to launch a new Program in Prenatal and Pediatric Genomic Sequencing (P3EGS) at UCSF. The program is aimed at pursuing equity in the implementation of genomic precision medicine for children and families in the San Francisco Bay Area.

Genomic precision medicine is a broad effort to connect the vast amounts of genetic sequencing data that have been collected in the past decades with information about human population health in order to understand why individuals respond differently to sickness and medical treatment, and to apply this knowledge toward developing more precise diagnostics and therapies targeted to the needs of particular patients and groups.

To advance equity in precision medicine within the Bay Area, the P3EGS team will recruit 1,100 families with children with potential prenatal or pediatric genetic disorders drawn from a diverse set of backgrounds, including medically underserved communities. P3EGS will not only provide state-of-the-art genomic assessments to these families, but also provide genetic counseling, develop software to aid in displaying and communicating genetic data in community clinics, and study the long-term benefits of providing genetic sequencing for these families and children as well as identify the barriers they face in accessing care.

The effort leverages the outstanding clinical, genomics, informatics, bioethics, health economics, and medical anthropology expertise that together form a robust genomics infrastructure at UCSF. The P3EGS team will be helmed by four leading members of the Institute for Human Genetics (IHG) at UCSF:

Neil Risch, PhD, the director of the UCSF Institute for Human Genetics, notes that P3EGS will be among the first users of the newly approved UCSF Whole Exome Sequencing service hosted by the Genomic Medicine Initiative, which he co-directs with Kwok.

Patients will be recruited from the diverse communities served by UCSF Benioff Childrens Hospital Oakland, UCSF Benioff Childrens Hospital San Francisco, UCSF Betty Irene Moore Womens Hospital, and Zuckerberg San Francisco General Hospital (ZSFGH).

Funding for the P3EGS program is part of $18.9 million being awarding by the NIH this year toward research accelerating the use of genome sequencing in clinical care at six sites across the United States, called the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium. The consortium is funded by the National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI), both part of NIH, and it builds upon an earlier Clinical Sequencing Exploratory Research (CSER) Consortium, initiated in 2010, which included an award to Koenig and colleagues to study the ethics of informing family members of participants in cancer biobank research about unanticipated genetic findings.

The CSER2 awards are designed to support the development of methods needed to integrate genome sequencing into the practice of medicine, improve the discovery and interpretation of genomic variants, and investigate the impact of genome sequencing on health care outcomes. In addition, the funds are intended to generate innovative approaches and best practices to ensure that the effectiveness of genomic medicine can be applied to all individuals and groups, including diverse and underserved populations, and in health care settings that extend beyond academic medical centers.

The full press release about the CSER2 awards is available on the NHGRI website

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New UCSF Program Aims to Advance Equity in Genomic Medicine in the Bay Area - UCSF News Services

By Anette BreindlSenior Science Editor

Kymriah (tisagenlecleucel, CTL-019, Novartis AG) and other chimeric antigen receptor (CAR) T cells have been making their way through clinical trials as cell therapies. So the FDAs Aug. 30 announcement that its approval of Kymriah was a historic action today making the first gene therapy available in the United States initially led to some head-scratching.

Why a gene therapy?

The most obvious possible goal of gene therapy is to replace a missing gene, or correct a defective one. Two of the gene therapies that have been approved by the European Commission, Glybera (alipogene tiparvovec, Uniqure BV), approved for the treatment of lipase deficiency (LPL) by in 2012, and Strimvelis (GSK-2696273, Glaxosmithkline plc.), approved in 2016 for treatment of patients with the rare immune disorder ADA-SCID, have the goal of replacing faulty genes.

But in the FDAs 1998 Guidance for Human Somatic Cell Therapy and Gene Therapy, gene therapy is defined more broadly, and depends on the process a cell has undergone before it is administered to a patient rather than on its therapeutic goal.

According to the guidance document, gene therapy is a medical intervention based on modification of the genetic material of living cells. Cells may be modified ex vivo for subsequent administration to humans, or may be altered in vivo by gene therapy given directly to the subject. When the genetic manipulation is performed ex vivo on cells which are then administered to the patient, this is also a form of somatic cell therapy.

By that definition, Kymriah is both a cell therapy just not the first and a gene therapy just not one that replaces a missing gene.

Why the first?

There is another genetically manipulated therapy on the market Imlygic (talimogene laherparepvec, Amgen Inc.), an oncolytic virus that was approved in 2015 for the treatment of melanoma lesions in the skin and lymph nodes.

Imlygic is also conditionally approved in the European Union, and there, it is considered a gene therapy.

On its website, the European Medicines Agency describes Imlygic, like Glybera and Strimvelis, as a type of advanced therapy medicine called a gene therapy product. This is a type of medicine that works by delivering genes into the cells of the body. Imlygic works both by replicating inside the melanoma cells, and by delivering the gene for GM-CSF, which stimulates the immune system to recognize the tumor cells.

The FDA, however, does not consider Imlygic a gene therapy because although Imlygic has been genetically modified, Imlygics primary biological activity is attributable to the oncolytic virus, not the genetic modification, an FDA spokesperson told BioWorld. In contrast, the function of the CAR T-cell product depends on the genetic material transferred to the patients cells. Therefore, the agency considers CAR T cells to be a type of cell-based gene therapy.

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Gene therapy Kymriah: What's in a name? - BioWorld Online

IMPORTANT: APPLICATION DEADLINE IS NOWDECEMBER 15THGENETIC COUNSELING TRAINING PROGRAMIntroduction and Program Goals

The Genetic Counseling Training Program, leading to a Master of Science degree in Genetic Counseling, is a two-year academic program comprised of didactic course work, laboratory exposure, research experience and extensive clinical training. The program, directed by Anne L. Matthews, R.N, Ph.D., is an integral component of the teaching and research programs in the Department of Genetics and Genome Sciences (G&GS) at CWRU under the leadership of Dr. Anthony Wynshaw-Boris, MD. Ph.D., chairman of G&GS. Program leadership also includes Rebecca Darrah, MA, MS, PhD, Associate Director and the program's medical director, Shawn McCandless M.D., Associate Professor of G&GS and Pediatrics and Director of the Center for Human Genetics, University Hospitals Cleveland Medical Center. The Program is accredited by the Accreditation Council for Genetic Counseling (ACGC) and graduates of the program are eligible to apply for Active Candidate Status and sit for the American Board of Genetic Counseling certification examination.

The overall objective of the Genetic Counseling Program is to prepare students with the appropriate knowledge and experiences to function as genetic counselors in a wide range of settings and roles. With unprecedented advances in our understanding of the genetic and molecular control of gene expression and development, and in our ability to apply this knowledge clinically, the Program strives to train students who can interface between patients, clinicians and molecular and human geneticists. Students gain insightful and multifaceted skills that will enable them to be effective genetic counselors, aware of the many new technical advances and often-difficult ethical, legal and social issues that have surfaced in the light of the Human Genome Project. Graduates of the Program will be prepared to work in a variety of settings including both adult and pediatric genetics clinics, specialty clinics such as cancer genetics, cardiovascular genetics and metabolic clinics, and prenatal diagnosis clinics, as well as in areas of research or commercial genetics laboratories relevant to genetic counseling and human genetics.

A unique aspect of the Genetic Counseling Training Program that it is housed within Case Western Reserve's Department of Genetics and Genome Sciences that is internationally known for both its clinical expertise and cutting edge research in molecular genetics, model organisms and human genetics. Thus, the Department of G&GS at CWRU provides an interface between human and medical genetics with basic genetics and provides an exciting atmosphere in which to learn and develop professionally. The direct access to both clinical resources and advanced technologies in human and model organisms affords students with an unparalleled environment for achievement. The Graduate Program in Genetics in the Department of Genetics and Genome Sciences provides an interactive and collaborative environment for both pre (genetic counseling and PhD students) - and post-doctoral trainees to come together in a collegial atmosphere. By fostering interactions between pre- and post-doctoral trainees in genetic counseling, medical genetics, and basic research at an early stage of their careers, it is anticipated that graduates will be well-rounded professionals with an understanding of the importance of both clinical and basic research endeavors. Moreover, such resources as the Department of Biomedical Ethics, the Center for Genetic Research, Ethics and Law, the Mandel School of Applied Social Sciences, and the Law-Medicine Center provide for an enriched learning experience for students.

The curriculum consists of 40 semester hours: 22 semester hours of didactic course work and 7 semester hours of research. Additionally, there are four 8-week clinical rotations, one 3-week laboratory rotation and one 6-week summer clinical rotation required of all students, which provide an additional 11 credit hours. Courses include material covering basic genetics concepts, embryology, medical genetics, biochemical genetics, molecular genetics, cytogenetics, genomics, cancer genetics, population genetics, genetic counseling principles, human development, psychosocial issues, interviewing techniques, and ethical and professional issues in genetic counseling.

Clinical rotations include one intensive three-week laboratory rotation in diagnostic cytogenetics and clinical molecular genetics as well as the Maternal Serum Screening program. There are four 8-week clinical rotations during year 2 during which students obtain clinical experience in General Genetics (children and adults) including Specialty Clinics such as Marfan Clinic, Prader-Willi Clinic and Craniofacial Clinic; Prenatal Diagnosis Clinic, and Cancer Genetics Clinic. These rotations take place at The Center for Human Genetics at University Hospitals Cleveland Medical Center, the Genomic Medicine Institute at the Cleveland Clinic and MetroHealth Medical Center. Students also will have the opportunity to pursue an elective rotation with specialty clinics or intern with genetic counselors in such areas as commercial testing companies. Additionally, there is one off-site rotation - a 6-week clinical rotation which is held at Akron Children's Hospital in Akron Ohio during the summer. Moreover, students rotate through the Cleveland-based institutions for weekly observational experiences starting early in year 1 of the program.

Students are also required to attend and participate in a number of other activities such as weekly Clinical Patient Conferences, Genetics Grand Rounds, Departmental Seminars and Journal Club. Students also participate with the doctoral graduate students in the Department of Genetics and Genome Sciences' annual retreat and present their research projects during the poster sessions. In addition, counseling students present their research during the programs Research Showcase. Students also have an opportunity to give educational talks to local schools, participate in DNA Day at local high schools and other groups when available.

Tuition for the 2017-2018 academic year is $1,827.00 per semester hour. Currently, other fees include student health insurance ($986 per semester) and a student activity fee of $14.00 per semester.

The Department of Genetics is unable to provide financial aid or research/teaching assistantships to students; however, it does award some scholarship funding in the form of a monthly stipend to genetic counseling students. The amount of the stipend is determined yearly and will be shared with applicants at the time of their interviews. In addition, the costs of the on-line embryology course as well as the CWRU Technology fee of $852.00 per year are covered by the Department. Moreover, students receive funds to cover the costs associated with their research projects and second year students receive funds to travel to the National Society of Genetic Counselors' annual education conference held in the fall.

Financial aid is available to graduate students. The university has extensive information regarding financial aid and scholarship opportunities to assist students in funding their education. For additional information or assistance, please contact the Office of University Financial Aid at http://case.edu/stage/admissions/financialaid.html or (216) 368-4530.

Clarice Young at (216) 368-3431 or email: clarice.young@case.edu

OR

The Program Director:

Please Note: The Direct Application link will take you to the School for Graduate Studies webpage. Go to Prospective Students - Admissions Information - Graduate Program Applications. You will see a link on the right hand side of the page entitled Application Log In to begin your application.

The application includes:

Fulfillment of the requirements for admission to the School of Graduate Studies at Case Western Reserve University must be met as well as those required by the Genetic Counseling Training Program. An applicant having graduated with excellent academic credentials (minimum undergraduate grade point average of 3.0 on a 4.0 scale) from a fully accredited university or college. Complete credentials must be on file with the School of Graduate Studies.

The Genetic Counseling Training Program at Case Western Reserve University is participating in the Genetic Counseling Admissions Match through National Matching Services (NMS) beginning with admissions for Fall 2018. The GC Admissions Match has been established to enhance the process of placing applicants into positions in masters-level genetic counseling programs that are accredited by the Accreditation Council for Genetic Counseling (ACGC). The Match uses a process that takes into account both applicants' and programs' preferences. All applicants must first register for the Match with NMS before applying to participating genetic counseling graduate programs. At the conclusion of all program interviews, both applicants and programs will submit ranked lists of preferred placements to NMS according to deadlines posted on the NMS website. The binding results of the Match will be released to both applicants and programs simultaneously in late April.

Please visit the NMS website at (https://natmatch.com/gcadmissions) to register for the match, review detailed information about the matching process, and to view a demonstration of how the matching algorithm works.

Important: After you have registered with NMS, you will need to put your NMS ID number at the top of your CV/Resume and/or at the top of your personal statement.

The average GPA for matriculating students is 3.5 and GRE mean scores are approximately, 60-70th percentiles and above. However, we take a holistic view of the applicant's complete file in determining admission, which means we look at everything the applicant has submitted. A high GPA or GRE score will not automatically lead to admission; neither will low scores automatically lead to a denial.*While the CWRU application form asks for your GRE scores, please include the percentile score as well.

The Personal Statement is extremely important and applicants need to pay specific attention to how they present themselves in their Personal Statement. Aspects to remember include: Is the applicant's Personal Statement grammatically sound, and does it give us a clear picture as to who the applicant is? Applicants' should emphasize those experiences which have directly assisted them in becoming aware of and knowledgeable about the genetic counseling profession. Genetic counselors are highly motivated and hardworking individuals. Thus, the Admissions Committee looks for applicants who demonstrate initiative, self-direction, excellent communication skills and who have "gone the extra mile" to show their passion for becoming a genetic counselor.

Letters of recommendation should be written by individuals who can provide an accurate picture of your academic capabilities, your communication skills (both written and spoken) and your potential to successfully complete graduate education. At least two referees should be faculty from your past institutions. Other excellent referee sources include genetic counselors you have shadowed or supervisors of internships or advocacy experiences which you have had. Recommendation letters from friends or family members are discouraged. Please note, while CWRU provides an on-line recommendation form for referees to complete, your referee should also provide a personal letter to accompany the form.

While the number of applications received by the Program varies from year to year, in general we receive approximately 60 - 70+ applications each year. At this time, the Program is able to accept 8 students per year.

December 15th of each year is the application deadline. It is important that all required materials such as GRE scores (including their percentiles), transcripts from all institutions in which you have completed coursework and letters of reference be submitted by the application deadline if you wish to have your application reviewed by the Admissions Committee. If you will be taking a prerequisite course or courses in the upcoming semester that will not be reflected on your current transcripts, please let us know in your personal statement (or Resume) which course or courses you will be taking to meet the pre-requisites. Also, please submit a current CV or resume along with your personal statement. The Program only admits one class per year -- in fall semester. Because of the intensive nature of the Program, all students must be full time, we are unable to accommodate part-time students.

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Genetic Counseling Program Overview - School of Medicine

But despite rounds of surgery and radiation and chemotherapy, the cancer kept coming back. Eventually, her prognosis shifted from very hopeful to very dim, Christine says. (Here are 8 things every woman needs to know about ovarian cancer.)

I had two young children and I was being told, basically, to get my affairs in order, she says. I was not given much hope. In fact, Christine was told she had around a month of "good-quality life" left to live.

It was around this time, early 2014, that her doctor at Cancer Treatment Centers of America proposed genomic testing. I had never heard of this form of testing before, she says. It was completely new to me. Considering the bleakness of her prognosis, she was excited to hear she had a hopeful new option.

Considering where I was, to be able to live a normal life and look forward to watching my kids grow up is amazing.

Her doctors sent her tumor cells to the labs of Foundation Medicine. Their tests identified mutations within the DNA of Christines tumor cells that indicated she might respond well to a targeted drug therapy called everolimus (trade name Antifor), which is normally used to treat renal (or kidney) cancer. She started on everolimus in 2014.

(Reverse chronic inflammation and start healing your body from the inside out with The Whole Body Cure.)

It was a drug interventionI take a pill every day with a glass of water, she says. After three years on the drug, her cancer has retreated: Ive had completely clear scans and my cancer is in remission."

I never would have thought this was possible, she adds of the seemingly miraculous outcome. Considering where I was, to be able to live a normal life and look forward to watching my kids grow up is amazing.

What Is Genomic Testing?Every cell in your body contains 20,000 to 30,000 genes. By examining those genes for abnormalities or mutations, genetic testing can determine if the makeup of your DNA puts you at greater risk for certain types of cancer. (This is what it's like to be tested for the breast cancer gene.)

The test offered by Foundation Medicine and other genomic testing companies is slightly different in that it also examines the genetic makeup of tumor cells.

By sequencing the genes within a persons tumor cells, the test can in some cases identify mutations that may respond to new and more-targeted treatment options, says Kojo Elenitoba-Johnson, MD, a professor of pathology and laboratory medicine and director of the Center for Personalized Diagnostics at the University of Pennsylvania Perelman School of Medicine.

MORE: 7 Warning Signs Of A Brain Tumor You Should Know

Genomic testing can also eliminate treatment optionsan outcome Elenitoba-Johnson says is also useful. This can prevent wasteful and counterproductive treatment courses, and it saves critical time that may be wasted in applying the wrong therapy, he explains.

Watch this moving video of strangers talking about their metastatic breast cancer:

It's important to note that, while drug companies are developing new treatments all the time, drugs do not exist for every genetic mutation, he adds. There are many more mutations than there are therapies at this point. Whether or not insurance will pay for the test or treatments also depends on the specifics of your situation and coverage.

PREVENTION PREMIUM: The One Thing That Got Me Through Cancer And A Divorce

Another Success StoryLike Christine Schmidt, Colleen Farrell was youngjust 33when she was first diagnosed with cancer.

In the summer of 2014, Id started feeling run down, she recalls. I started napping every day, which was totally unlike me, and I had discomfort in my lower back.

Doctors initially pegged her discomfort as a pulled muscle. But by that fall, they had identified a tumor. Colleen had advanced colorectal cancer. (Every woman should know these 5 signs of colorectal cancer.)

I was Stage 4, so it was bad, she recalls. It wasnt quite, Go home and plan your funeral, but it was, Be aware that you might have to soon.

MORE:7 Things That Surprised Me About Going Through Chemotherapy

Despite radiation and chemo, the cancer soon spread to her liver and both her lungs. I was blown awayjust devastated, she says. Things were very grim.

The images came back showing that not only had the tumors not grown, but theyd started to recede.

Her doctors told her about genomic testing, and that it could open doors to new treatment options. They told me some people were having success, but there were a lot of unknowns, she recalls. I asked what my odds were without it, and they told me a couple of months, so I obviously wanted to try it.

The results her doctors got back from Foundation Medicine indicated her cancer might respond to immunotherapy (here's how it works). I started it in March of 2016, she says. Eight weeks later, I had my first scan, and the images came back showing that not only had the tumors not grown, but theyd started to recede.

She says her doctor was floored. Back when her rectal tumor had first been discovered, it had measured 12 centimeters. After just one course of the new treatment, it had shrunk to 7 cm. My doctor couldnt believe how well it was working, she says.

MORE: 11 Women Share The Surprising Ways They Discovered They Had Cancer

In fact, the new medication almost worked too well. I ended up having three massive hemorrhages and almost died because my tumor shrank so quickly that all the blood vessels and organs that were smushed up suddenly started pumping blood again, she says. So that tells you how quickly it worked.

Colleen says shes not completely out of the woods. But I never thought Id be where I am today, she adds. I think all the time how lucky I was to have benefited from thisthat I could try itbecause not everybody can.

Whos A Candidate For Genomic Testing?As recently as a few years ago, the type of gene sequencing performed during this test would have cost millions of dollars and taken years, not days, to complete, Elenitoba-Johnson says.

Because the genomic testing platform is so newand many of the associated treatment options are still in clinical trialsgenomic testing may only be appropriate when conventional approaches like chemotherapy have failed, he says. (Here are 5 misconceptions you probably still have about chemo.) It really depends on the type of cancer a person has.

For some forms of leukemia, the knowledge of the disease response is pretty mature, and so the first-line management is receiving this test and one of these new targeted therapies, he explains. In other cases, drugs [targeting the mutations] have only recently become available, and knowledge of their effectiveness and side effects is not as well-understood.

He mentions lung cancer, colorectal cancer, and melanoma as other forms of cancer for which genomic testing may be appropriate. But again, it depends on the individual patient and the specifics of their cancer.

MORE: 7 Skin Cancer Symptoms You Can't See

Needless to say, the science of cancer diagnostics and treatment has entered a new and exciting phase. Genomic testing, coupled with newer, more-targeted therapies, is already saving lives.

The future is here, and it is bright. But theres a lot more work to be done.

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This Last-Resort Test Saved 2 Women From CancerAnd It Could Save You, Too - Prevention.com

More than three-quarters of Americans would accept release of genetically modified mosquitoes to decrease risk of the Zika virus, but fewer than half accept genetic modification (GM) of animals, grain crops and produce, according to a Purdue University study.

Nicole Olynk Widmar, associate professor of agricultural economics, and Wally Tyner, the James and Lois Ackerman Professor of Agricultural Economics, led the study to understand attitudes toward genetic engineering in the wake of last year's heightened coverage of the Zika virus. The results suggest people are far more accepting of genetic modifications that benefit human health but are still somewhat wary of modifications to food.

"Whenever you have a newly perceived health risk, there are calls for technology to solve the problem. If you think about the Ebola virus, everybody said, 'Where's an Ebola vaccine?' They wanted technology to mitigate the risk," Widmar said. "Food is an everyday choice. In some ways, I can understand why people may be more cautious about what they're ingesting on an ongoing basis."

Data also show that acceptance of genetic modification may be related to sex, education, income and awareness of GM technology.

Zika, a virus spread primarily through mosquito bites, can cause severe birth defects including microcephaly and fetal brain defects. The virus was especially prevalent in Brazil during the 2016 Summer Olympics in Rio de Janeiro, and mosquito carriers have been reported in parts of Florida and Texas.

Mechanisms developed to control virus include the release of genetically modified mosquitoes that will breed with females to produce eggs that won't hatch or offspring that die before reaching sexual maturity. Widmar and Tyner wanted to assess public opinion of the technologies and understand what drives acceptance of some genetic modifications but not others.

Findings are based on 964 Americans surveyed with a goal of selecting respondents that matched 2014 census estimates for age, gender, income, education and region of residence. The margin of error was about 3 percent, and results were published in the journal PLoS One.

The survey revealed that 78 percent would support release of genetically modified mosquitoes in the United States. Acceptance of genetic modification is 44 percent for livestock production; 49 percent for grain production; 48 percent for fruit and vegetable production; 62 percent for human medicine; and 68 percent for human health.

Males were more likely to accept genetic modification across all categories. Younger respondents also accepted at higher rates in everything except for human health reasons, in which there was no significant difference amongst age groups.

Higher income groups were more likely to agree with genetic modification for grain, fruit and vegetables, and livestock production than lower income groups. Those with college degrees were more accepting of genetic modification.

Finally, the findings show that those aware of genetically modified mosquito technology were more likely to be accepting of genetic modification in all areas assessed.

Widmar said she expected respondents to be more accepting of genetic modification for health and medicine, and she suspects it may have to do with how those technologies have been released. In the case of mosquitoes, Zika was all over the news, as was coverage of companies seeking regulatory permission to release their modified insects for trials. Americans were likely less informed about the release of genetically modified crops and found out about them after they were already a significant part of the food chain.

"The perception of choice matters," Widmar said. "If you need it to stay healthy, you would probably use it. But if you feel like you were given GMOs and told about it later, that might upset you."

Tyner said there may be a lesson in the data for those who want to develop future GMO technologies. While GMO crops have often been lauded for reducing inputs and lowering costs for growers, people may be more receptive to information about how those same crops allow use of less toxic pesticides.

"If we can highlight health and environmental benefits, rather than just focusing on the bottom line that might have a positive effect on the public attitude toward GMOs," Tyner said. "If you look back, things might have gone differently if we had the first releases in the medical field rather than the food field."

Widmar and Tyner plan to continue work related to the impacts of GMOs on society. Widmar continues to assess consumer acceptance, and demand for, various technologies impacting the human condition through food production and health care.

Explore further: Survey: Public supports use of GMO mosquitoes to fight Zika virus

More information: Nicole J. Olynk Widmar et al. When is genetic modification socially acceptable? When used to advance human health through avenues other than food, PLOS ONE (2017). DOI: 10.1371/journal.pone.0178227

Journal reference: PLoS ONE

Provided by: Purdue University

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Americans OK with GMs for health care, but still wary about food - Medical Xpress

David Gorski | August 29, 2017

One of the most persistent narratives latched on to by advocates of integrative medicine is that the mind can somehow heal the body. Sometimes, the claim is that such interventionswork through powerful placebo effects. Sometimes it involves the abuse of emerging science, such overblown claims about what can be accomplishedthrough epigeneticmodificationsof DNA and gene expression.

Mind-body therapies, such as mindfulness-based therapies, are very attractive because they are low cost, dont involve pharmaceuticals, and, above all, provide a sense of control to the patient. Indeed, as ever more rigorous clinical trials find that most of the unconventional therapies (i.e., quackery) that integrative medicine integrates with conventional medicine are elaborate placebos, proponents of integrative medicine increasingly fall back to pointing to modalities like yoga, tai chi, and the like and mindfulness.

[Placebo effects can be] misrepresented as the power of the mind over the body. You can see how mindfulness and other mind-body interactions are just as attractive, because many of them involves actual thinking and meditating. Unfortunately, the science does not (as yet) support many of the overblown claims made for these practices. Its not clear whether it ever will. Certainly its unlikely that they reprogram our DNA.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:Yawn. Another study tries to convince us that mind-body interventions can reprogram our DNA. It fails.

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Viewpoint: Can yoga 'reprogram' our DNA? Don't bet on it - Genetic Literacy Project

(RNS) There is not a minute, an action, a choice, in Laurie Zoloths life she doesnt examine by a linein the Torah, Justice, justice, shall you pursue.

The new dean of the University of Chicago Divinity School a former nurse and union activist who became a nationally respected bioethicist and a professor in multiple fields is an Orthodox Jew. She observes the sacred space and time of Sabbath, declining work from sunset Friday to sunset Saturday, and keeping kosher, the ancient Jewish dietary laws.

For Zoloth, every word and deed, from academia to social action to raising chickens in her backyard, is seen through the prism of Deuteronomy 16:18-20.

I am a lifelong activist from the 60s, said Zoloth, 67. Her antenna always tuned to idealism, she dropped out of Swarthmore to become a licensed practical nurse to care for poor women, boycotted grapes with the United Farm Workers,rallied for civil rights, marched against the Vietnam War and cut sugar cane in Cuba in 1969 to oppose the U.S. trade embargo.

Her move in July to lead one of the nations most prestigious divinity schools comes at a historic moment in our national life, said Zoloth in an interview about how she came to this moment and her ideas for her deanship at thedivinity school.

The questions of religion are at the center of our national life. We see today questions of good and evil, how we ought to live and what we owe one another. Our job is to uncover the truth and ask questions: What does it mean to be a human being? What does it mean to be free? And what must we do about the suffering of others? The university exists to pursue this, she said.

Richard Doerflinger, left, representing the U.S. Conference of Catholic Bishops, and Laurie Zoloth, director of genetic medicine at Northwestern University, appear before the Senate Commerce Science, Technology and Space Subcommittee on Capitol Hill on Sept. 29, 2004, to discuss embryonic stem cell research. (AP Photo/Dennis Cook)

These were the same kind of questions that prompted Zoloth to return to academia in the 1970s, earning bachelors degrees in womens studies and nursing, masters degrees in Jewish studies and in English, and a doctorate in social ethics.

Her academic and social passions converged just as the field of bioethics was developing, with patients and doctors addressing questions about withholding or withdrawing treatment, the right to informed consent in medical research and more. Zoloth joined the ethics committee at Kaiser Permanente in California by convincing the health care organization:You need women. You need Jews. You need nurses. Hire me.

After leading the Jewish studies program at San Francisco State University, she moved on to Northwestern University in Evanston, Ill., where she had dual appointments in the department of religious studies in the Weinberg College of Arts and Sciences and in the Feinberg School of Medicine and led the Faculty Senate.

Along the way, Zoloth served as president of American Society for Bioethics and Humanities and also of the American Academy of Religion.

At AARs 2014 annual meeting, Zoloth said: As scholars and as citizens we must do the work of giving people a full and accurate understanding of our society. We must engage. We must speak out. If we are neutral in a situation of injustice, we have chosen the side of the oppressor.

The Rev. Martin Marty, an emeritus professor at the UC Divinity School, historian of religion and former associate dean, said Zoloths views are exactly the kind of approach that probably made her attractive to the faculty.

Indeed, the news release announcing her appointment pinpointed her work on evolving issues of science and society.

Its not unusual to have Jewish faculty at university-based divinity schools and at independent denominational seminaries. Amy Jill Levine, now a University Scholar at Vanderbilt, describes herself as a Yankee Jewish feminist who teaches in a predominantly Christian divinity school in the buckle of the Bible Belt.

However, Frank Yamada, executive director of the Association of Theological Schools, said hes not aware of someone Jewish as dean of a university divinity school and Zoloth is now leading one of the most prestigious in the country.

Zoloth recalled when the divinity school search committee approached her. I wasnt looking to move but when the University of Chicago calls, you dont say, No.

It is an extraordinarily exciting place, deeply intellectual and full of robust and deep conversations on issues that matter. The great questions that religion raises can be researched and taught and brought to life here, said Zoloth.

Those questions, however, will not be addressed in an academic bubble. Zoloths plan: Wake up every weekday morning for her daily 4-mile run and go to work prompting scholars to be seekers of truth, terrific teachers and great researchers but also to be courageous.

Every gesture is a moral gesture, she said. There is no nowhere. There is no place that you cannot participate.

Not even your backyard.

Consider Zoloths chickens. She first began raising fowl for eggs and composting the waste in her organic garden decades ago in Berkeley when her five children were young.

There will be no chicken coops for her with her move to Hyde Park, home of the University of Chicago. Shes given up coops for a co-op shell share with her youngest child since her husband, Rabbi Dan Dorfman, died last year.

The chickens are being given to friends in Evanston, where Zoloth participated in a 2009 battle to overturn a ban on backyard chickens in the upscale Chicago suburb.

Zoloth told the campus paper at the time that the ban had been aimed at poor immigrants and that it was particularly foolish during a recession when sustainable living becomes not just thinking about carbon footprints. It is also rethinking what your choices are. Rethinking every choice leads you right to what you plant in your front yard or what you eat.

So the chicken cause is a bird of a feather with Zoloths lifelong focus.

Justice, justice, shall you pursue, she said. Its my favorite verse.

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An Orthodox Jewish woman takes the helm of Chicago Divinity School - Religion News Service

A genetic predisposition is a genetic characteristic which influences the possible phenotypic development of an individual organism within a species or population under the influence of environmental conditions. In medicine, genetic susceptibility to a disease refers to a genetic predisposition to a health problem,[1] which may eventually be triggered by particular environmental or lifestyle factors, such as tobacco smoking or diet. Genetic testing is able to identify individuals who are genetically predisposed to certain diseases.

Predisposition is the capacity we are born with to learn things such as language and concept of self. Negative environmental influences may block the predisposition (ability) we have to do some things. Behaviors displayed by animals can be influenced by genetic predispositions. Genetic predisposition towards certain human behaviors is scientifically investigated by attempts to identify patterns of human behavior that seem to be invariant over long periods of time and in very different cultures.

For example, philosopher Daniel Dennett has proposed that humans are genetically predisposed to have a theory of mind because there has been evolutionary selection for the human ability to adopt the intentional stance.[1] The intentional stance is a useful behavioral strategy by which humans assume that others have minds like their own. This assumption allows you to predict the behavior of others based on personal knowledge of what you would do.

E. O. Wilson's book on sociobiology and his book Consilience discuss the idea of genetic predisposition to behaviors

The field of evolutionary psychology explores the idea that certain behaviors have been selected for during the course of evolution.

The Genetic Information Nondiscrimination Act, which was signed into law by President Bush on May 21, 2008,[2] prohibits discrimination in employment and health insurance based on genetic information.

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Genetic predisposition - Wikipedia

Using fragments of circulating tumor DNA in blood, University of California San Diego School of Medicine researchers were able to identify theoretically targetable genetic alterations in 66 percent of patients with cancer of unknown primary (CUP), a rare disease with seven to 12 cases per 100,000 people each year.

In order to plan treatment for cancer in general, physicians first attempt to pinpoint the primary cancer where the tumor first developed. In CUP, despite its spread throughout the body, the origin remains unknown, making treatment more difficult. The current standard of care is platinum-based combination chemotherapies with a median survival time of six to eight months.

Razelle Kurzrock, MD, director of the Center for Personalized Cancer Therapy at Moores Cancer Center at UC San Diego Health.

In a study published in the journal Cancer Research on August 15, researchers report that by sequencing circulating tumor DNA (ctDNA) derived from blood samples in 442 patients with CUP, they were able to identify at least one genetic alteration linked to cancer in 290 66 percent of patients. Researchers used a screening test developed by Guardant Health that evaluates up to 70 genes. Based on known carcinogenic mutations, 99.7 percent of the 290 patients who had detectable tumor DNA in their bloodstream had genomic alterations that could hypothetically be targeted using existing FDA-approved drugs (as off-label use) or with therapies currently under investigation in clinical trials.

By definition, CUP does not have a definite anatomical diagnosis, but we believe genomics is the diagnosis, said Razelle Kurzrock, MD, director of the Center for Personalized Cancer Therapy at Moores Cancer Center at UC San Diego Health and senior author. Cancer is not simple and CUP makes finding the right therapy even more difficult. There are multiple genes and abnormalities involved in different areas of the body. Our research is the first to show that evaluating circulating tumor DNA from a tube of blood is possible in patients with CUP and that most patients harbor unique and targetable alterations.

A blood or liquid biopsy is a diagnostic tool based on the idea that critical genetic information about the state of disease can be found in blood or other fluids. One vial of blood could be used to detect the onset of disease, monitor its progression and measure its retreat less invasively than a tissue biopsy.

Shumei Kato, MD, assistant professor of medicine at UC San Diego School of Medicine.

Another advantage of the liquid biopsy is that the location of the cancer does not matter, said Shumei Kato, MD, assistant professor of medicine at UC San Diego School of Medicine and first author. With a blood sample, we can analyze the DNA of tumors throughout the body to find targetable alterations. With tissue biopsies, we can only see genomic changes that are in that one site and that may not be the same as what is in different sites not biopsied, such as the lung or bone.

Liquid biopsies are relatively simple to get and can be obtained regularly to monitor changes over time, as was the case with a 60-year-old woman with CUP. Her case, which was evaluated by Brian Leyland-Jones, MB, BS, PhD and study co-author with colleagues at Avera Cancer Institute, was described in the study to show the changes observed in ctDNA over the course of her treatment.

What we saw was that the patient was responding to treatment, but the cancer had emerging new mutations, said Kurzrock. Whats new here is that we can do the same evaluation through a blood test that we previously could only do with a tissue sample. You will see these changes with a simple blood test and it is easy to repeat blood tests, but hard to repeat tissue biopsies.

The study also reported the case of an 82-year-old man who was prescribed a checkpoint inhibitor immunotherapy as part of his treatment because of a mismatch repair gene anomaly that is typically observed in less than two percent of patients. He showed a partial response within eight weeks and blood biopsies showed the tumor DNA disappearing.

We can see that each patient has different mutations in their tumor DNA, which means that treatment plans cannot be a one-size-fits-all approach; a personalized approach is needed, said Kato.

Kurzrock is already using liquid biopsy technology in the Profile Related Evidence Determining Individualized Cancer Therapy (PREDICT) clinical trial a project focusing on the outcome of patients who have genomic testing performed on their tumors and are treated with targeted therapy.

The authors suggest that a liquid biopsy approach should be further investigated in next-generation clinical trials focusing on CUP.

Co-authors include: Nithya Krishnamurthy, Scott M. Lippman, UC San Diego; Kimberly C. Banks, Richard B. Lanman, Guardant Health, Inc.; Pradip De, Kirstin Williams, and Casey Williams, Avera Cancer Institute.

This research was funded, in part, by the National Cancer Institute (P30 CA016672) and the Joan and Irwin Jacobs fund.

Disclosure: Razelle Kurzrock receives consultant fees from X-biotech and from Actuate Therapeutics, as well as research funds from Genentech, Pfizer, Sequenom, Guardant, Foundation Medicine and Merck Serono, and has an ownership interest in Novena Inc. and CureMatch Inc.

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Blood Biopsy Reveals Unique, Targetable Genetic Alterations in Patients with Rare Cancer - UC San Diego Health