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Mon, Jan 29 7:04pm · Direct-to-consumer genetic testing—a rapidly shifting landscape

Direct-to-consumer genetic or over the counter testing emerged in the early 2000s as a means of allowing consumers to access information about their genetics without the involvement of a physician. While early models were popular with consumers, they were controversial in medical and regulatory circles.

In the January 2018 issue of Mayo Clinic Proceedings authors Megan Allyse Ph.D., David Robinson, Matthew Ferber Ph.D. and Richard Sharp Ph.D. trace the history of direct-to-consumer genetic testing, discuss its regulatory implications, and describe the emergence of a new hybrid model.

Direct-to-consumer testing — the early days

Megan Allyse, Ph.D.

In 2007 the journal Science named human genetic variation the “breakthrough of the year” and direct-to-consumer companies were offering microarray panels for $1,000. Fast forward five years and the curious consumer could get a microarray panel for $99. Microarray refers to a microchip-based testing platform that allows high-volume, automated analysis of many pieces of DNA at once.

“Consumers liked the convenience of direct-to-consumer testing, the appeal of gaining access to their personal genetic information, and its promotion of preventive and individualized medicine,” says Dr. Allyse, a Mayo Clinic bioethicist, and lead-author of the paper.

However, critics quickly raised concerns about direct-to-consumer testing.

  • Risk of misinterpreting genetic test results
  • Making health decisions on inaccurate or incomplete information
  • Lack of consideration for ethnic and racial differences across human populations
  • Potential for unnecessary, expensive, or time-consuming downstream medical testing
  • No clear regulatory mechanisms in place to assess the analytical and clinical validity, and clinical utility
  • Poor procedures in place to ensure informed consent for the testing process
  • Consumers may not understand the health implications of the information they received
  • Companies could sell aggregate data to third parties or use consumer’s data for research without their awareness

By 2011 the government began cracking down on the practices of direct-to-consumer testing companies. In 2013, the U.S. Food and Drug Administration (FDA) ordered 23andMe to immediately discontinue marketing and sales of its health-related testing services until they received FDA authorization for these devices.

A new model emerges — direct-to-consumer 2.0

In 2015, 23andMe received FDA device approval for its carrier screen for hereditary Bloom syndrome. The FDA confirmed that 23andMe had submitted evidence demonstrating that members of the public were capable of correctly interpreting the test report at a 90 percent comprehension level.

“At the same time the FDA announced that it would classify direct-to-consumer genetic carrier screens as lower risk devices. This opened the way to testing for additional autosomal recessive conditions and signaled the FDA’s willingness to consider at least some forms of direct-to-consumer medical testing under the regulations,” says Dr. Allyse.

That same year Illumina one of the largest providers of genomic sequencing in the U.S. launched Helix, a personal genomics platform that utilizes a “sequence-once-query-often” model. Helix stores genomic information in a central database and allows its partners to develop various testing strategies that interrogate portions of genomic datasets for its customers. In 2017, the FDA approved the marketing of the first direct-to-consumer test for genetic health risk, 23andMe’s Personal Genome Service, which tests for 10 diseases or conditions, including Alzheimer’s risk, Parkinson’s disease, and hereditary thrombophilia.

“These emerging models of direct-to-consumer genetic testing attempt to strike a balance between the need to ensure consumer safety and the knowledge that personal genomic information is both highly desirable and potentially beneficial to some consumers,” says Dr. Allyse.

The future of direct-to-consumer testing 

Dr. Allyse and colleagues speculate on several promising strategies to align the interests of the direct-to-consumer market and the practice of medicine:

  • Improve pre-test education to facilitate the kind of informed consent expected in a medical setting
  • Separate consent to receive testing by purchasing a product from agreeing to the storage, use or sale of samples for research
  • Create clearer pathways into the medical system in the event of high-risk results by partnering with licensed medical providers to ensure information integrity
  • Provide a supportive environment for consumers acknowledging the entertaining nature of genetic information and provide for counseling and follow-up

The Mayo Clinic Center for Individualized Medicine continues to seek ways to apply the latest genomic, molecular and clinical science to personalized care for every individual, so patients receive the exact care they need — when they need it — and to address unmet needs of the patient.

Disclosure: The authors have no personal financial relationships to disclose. Mayo Clinic holds a commercial interest in Helix. There was no relationship between Helix and the contents of this paper.

Mayo Clinic Proceedings Symposium on Precision Medicine 

This paper is part of the Mayo Clinic Proceedings Symposium on Precision Medicine, a series of articles that cover a wide range of topics in personalized medicine. Watch for an upcoming article in the symposium focusing on how personalized medicine and genomics are impacting patient care in the area of heritable cancers.

Read more about the ethical issues of home DNA kits

Learn more about biomedical ethics

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Dec 7, 2017 · Microbiome emerges at the frontier of precision medicine

Our genes help determine what makes us unique, such as our eye color, height and whether we are left- or right-handed. But did you know that you also have a unique community of bacteria that live in and on your body, known as your microbiome?

Research has shown that a person’s microbiome affects their health and susceptibility to disease. Your microbiome can be influenced by medications or diet. That’s why microbiome research holds promise for developing individualized approaches to treating a wide range of diseases.

In the latest issue of Mayo Clinic Proceedings, Mayo Clinic researchers reviewed the importance of the microbiome as a key component of personalized medicine to improve diagnosis, reduce disease risk and optimize early detection and treatment. The microbiome is the combined genetic material of the microorganisms in a particular environment.

Purna Kashyap, M.B.B.S.

“The ability to characterize the microbiome, which includes microbes that reside within and upon us and all their genetic elements, using next-generation sequencing allows us to now incorporate this important contributor to human disease in developing new preventive and therapeutic strategies,” says Purna Kashyap, M.B.B.S., a Mayo Clinic gastroenterologist, associate director, Mayo Clinic Center for Individualized Medicine Microbiome Program and lead author of the review.

Potential role of the microbiome in human disease

Here are some applications which highlight the role of the microbiome at the frontier of personalized medicine:

  • Microbial fingerprints could serve as precise, noninvasive, accessible and economical tools that could be used for personalized disease diagnosis, including phenotypes (observable physical characteristics of an individual) severity and prognosis.
  • The role of the microbiome in the metabolism of many chemical compounds makes it a key player in determining drug availability, effectiveness and harmfulness. This could be indispensable for developing personalized drug therapies.
  • The ability to change the microbiome makes it appealing in developing personalized treatment approaches targeting specific microbial pathways tailored to an individual’s microbiota. This may help development of treatments for disorders such as inflammatory bowel disease, obesity and diabetes.
  • Other possibilities include altering the microbiome by using genetic engineering approaches, next-generation prebiotics selectively fermented by gut microbes that confer a health benefit, personalized dietary therapies such as microbiome markers to optimize dietary interventions, and changing the diet based on the microbiome.

Watch: Mayo Clinic offers insights on the microbiome at the frontier of personalized medicine.

Dr. Kashyap expands on the promise and challenges of microbiome research here. 

Mayo Clinic Proceedings Symposium on Precision Medicine 

This paper is the eighth in the Mayo Clinic Proceedings Symposium on Precision Medicine, a series of articles that cover a wide range of topics in personalized medicine. Watch for upcoming articles in the symposium, which will focus on how personalized medicine and genomics are impacting patient care. Learn more about the series.

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See highlights from our recent Individualizing Medicine Conference 2017: Advancing Care Through Genomics:

Save the date for next year’s Individualizing Medicine Conference. It will be held September 12-13, 2018 in Rochester, Minnesota.

 

Sep 25, 2017 · Study evaluates effectiveness of deep genomic profiling in clinical setting

Genomic profiling is used today for patients with advanced cancers to help develop new ways to diagnose and treat their disease and offer an individualized treatment plan. While gene panel testing is relatively commonplace, there are many barriers to using new and more sophisticated DNA technologies.

According to Mitesh Borad, M.D., an oncologist at the Mayo Clinic campus in Arizona, there are two key obstacles to applying advanced DNA testing to cancers.

First, this type of approach is cost prohibitive for many patients. Insurance coverage is inconsistent for whole exomes, RNA sequencing and structural genomic assays and some patients may have to pay out-of-pocket.

Second,  it takes a large multi-disciplinary team (bioinfomaticians, lab scientists, oncologists) typically found only at large academic cancer centers.

Mitesh Borad, M.D.

To better understand these obstacles, Dr. Borad and a team of researchers pursued a genomic deep dive using clinical grade testing to better understand the impact.

The study, in Nature Scientific Reports, represents one of the earliest published efforts to date of Clinical Laboratory Improvement Amendments (CLIA)-enabled integrated deep genomic profiling for the identification of therapeutic targets in patients with advanced cancer.

The researchers pursued three objectives:

  1. Determine how much time it takes to complete integrated whole exome/long insert whole genome/transcriptome sequencing.
  2. Estimate how much time it takes to report results of therapeutically relevant drug targets derived from integrated whole exome/long-insert whole genome/whole transcriptome sequencing, along with CLIA validation.
  3. Determine process of drug access.

As a result of the study, researchers determined integrated genomic profiling in a CLIA enabled workflow was successfully demonstrated in a consistent fashion in patients with complex disease diagnosis.

“It is anticipated that with development of faster sequencing, better informatics tools and automation and drop in costs (e.g. recent announcement of potential for a $100 genome) that this will become more broadly applicable and the work presented in the study along with other complementary efforts in the field will lay a groundwork for future activities,” says Dr. Borad.

The study also provides a contextual framework to incorporate other genomic analyses into the workflow as therapeutics using these approaches enter the clinic and their role in therapeutic response prediction is better defined.

This study was supported by: NIH/NCI 1DP2CA195764, and the Mayo Clinic Center for Individualized Medicine. Dr. Borad has been involved in implementation of genome wide assays into molecular profiling efforts in early phase studies since 2007.

Register to attend Individualizing Medicine 2017 and learn more about pharmacogenomics 

Join us to learn more about bringing precision medicine into practice at Individualizing Medicine 2017: Advancing Care Through Genomics.

The Mayo Clinic Center for Individualized Medicine is hosting the sixth annual genomics conference October 9–10, in Rochester, Minnesota.

Explore all conference offerings:

Mayo Clinic Center for Individualized Medicine is hosting the conference with support from the Jackson Family Foundation.

Sep 19, 2017 · How does a genomic tumor board impact patient care?

The outcomes from a Mayo Clinic study published in Oncotarget found value in having an established genomic tumor board, and using genomics for certain patients.

The experience of the Genomic Tumor Board has promoted an evolution in the practice according to Alan Bryce, M.D., a Mayo Clinic oncologist, and co-first author on the study.

“There is an emerging consensus to begin genomic analysis early in the treatment course due to many driver mutations presenting early in the disease course. This allows time for potential therapies in a clinically useful timeframe,” says Dr. Bryce.

Alan Bryce, M.D.

Mayo researchers looked at initial results from their efforts in establishing the Mayo Clinic Genomic Tumor Board. The board brings together physicians, research scientists, cancer biologists, ethicists, pathologists, bioinformaticians and genetic counselors from Mayo Clinic campuses in Arizona, Florida, and Minnesota. This “A” team reviews and discusses each case, bringing their unique expertise to the table. Through consensus they conclude if findings are deemed actionable, lead to treatment recommendations, and are deemed informative.

According to Jan Egan, Ph.D., a Mayo Clinic research scientist and co-first author, the Genomic Tumor Board provided a translational platform to transform the practice.

“We brought together the unique perspectives of clinicians and laboratory scientists to drive treatment decisions and create patient focused research questions,” says Dr. Egan.

Jan Egan, Ph.D.

The Mayo Clinic Genomic Tumor Board engaged in patient case review to address limitations by considering genomic testing results, in addition to treatment options such as: surgery, ablation, radiation, new chemotherapy, or observation. Other benefits included facilitating collaboration between physicians and scientists to assist with target prioritization or consideration of alternate targets. It also provided a forum for teaching and consideration of alternative treatment options in complex cases. The Genomic Tumor Board contributed to the ongoing revolution of tumor genomic-based treatment in cancer, along with innovations in clinical trial design, technological innovations in big data management, and regulatory changes promoting data.

What are the barriers to delivery?

The study revealed these barriers to implementing genomics into cancer care:

  • Knowledge. Fewer than half of Mayo oncology faculty, fellows and advanced practitioners surveyed felt confident enough in their understanding of genomics to make treatment recommendations and explain it to patients. The majority sought input from colleagues or conducted a literature search when uncertain.
  • Access. Patients struggle with gaining access to the recommended therapy, pointing to drug access barriers that prevent optimal use of tumor genomic testing.
  • Cost. Out of pocket expenses and reimbursement varies by insurance company.

Looking ahead, researchers identified the importance of rapidly sharing insights gained from successful treatment to other clinicians and investigators. In addition, cross-institutional databases linking genomic profiles and treatment outcomes are needed given the rarity of specific abnormality/tumor combinations. Lastly, cost of tumor sequencing should be compared to the cost of treating with unselected therapies or enrolling in non-biomarker based clinical trials.

“We demonstrated treatment decisions driven by tumor genomic analysis can lead to significant clinical benefit in a minority of patients,” says Dr. Bryce.

Grant support

Center for Clinical and Translational Science grant UL1 TR000135, and the Mayo Clinic Center for Individualized Medicine.

Register to attend Individualizing Medicine 2017 and learn more about pharmacogenomics 

Join us to learn more about bringing precision medicine into practice at Individualizing Medicine 2017: Advancing Care Through Genomics.

The Mayo Clinic Center for Individualized Medicine is hosting the sixth annual genomics conference October 9–10, in Rochester, Minnesota.

Explore all conference offerings:

Mayo Clinic Center for Individualized Medicine is hosting the conference with support from the Jackson Family Foundation.

 

 

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