Genomics & genetics

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2018 Precision Medicine Conference Will Address Pharmacogenomics

May 31, 2018

On June 22, 2018, the Institute of Personalized Medicine will present its annual conference on precision medicine, "Pharmacogenomics: Genomic Testing to Individualize Drug Therapy." Pharmacogenomics (PGx) is the science of how an individual's genetic background impacts response to medications. This event will provide education on a range of topics including cancer somatic mutations and selection of targeted therapies, emerging PGx areas such as analgesics and how to apply PGx in minority populations, clinical PGx guidelines, use of PGx in children, implementation of PGx in practice settings, insurance reimbursement, evidence for cost effectiveness and improved quality of care. Sessions begin at 8 am at McNamara Alumni Center; to learn more and register, click here

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Wolf SM , Scholtes E , Koenig BA , Petersen GM , Berry SA , Beskow LM , Daly MB , Fernandez CV , Green RC , LeRoy BS , Lindor NM , O'Rourke PP , Radecki Breitkopf C , Rothstein MA , Van Ness B , Wilfond BS . Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants. Journal of Law, Medicine & Ethics 2018;46(1):87-109. PDF icon Download PDF (888.84 KB)

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Louise Slaughter

Louise Slaughter, Lead Author of GINA, Passes Away

March 20, 2018

New York representative Louise M. Slaughter died last week at the age of 88. She was trained as a microbiologist and was one of the longest-service members of the US House of Representatives. Among her many accomplishments was serving as lead author of the Genetic Information Nondiscrimination Act (GINA) of 2008. This landmark legislation protects individuals from genetic discrimination in health insurance and employment; it was designed to help ease discrimination concerns that might keep people from getting genetic tests that could benefit their health. The law also enables people to take part in research studies without fear that their DNA information might be used against them in health insurance or the workplace. According to Eric Green of the National Human Genome Research Institute (NHGRI), "We have truly lost a genomics champion. Louise Slaughter had the vision that GINA was needed to ensure continued advances in genetics and genomics research, especially for clinical applications — and she was completely right. Our research community will remember her commitment to these important social and ethical issues." GINA is among the laws that will be accessible via the website of the NHGRI-funded LawSeqSM project, for which Consortium chair Susan M. Wolf is Co-PI with Ellen Wright Clayton of Vanderbilt and Frances Lawrenz of the University of Minnesota. LawSeqSM is dedicated to building a legal foundation for translating genomics into clinical application; the website will go live in spring, 2018. 

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23andMe Wins FDA Approval for Direct-to-Consumer Cancer Test

March 6, 2018

The U.S. Food and Drug Administration (FDA) today authorized the first direct-to-consumer (DTC) test to report on three specific BRCA1/BRCA2 breast cancer gene mutations that are most common in people of Ashkenazi (Eastern European) Jewish descent. These three mutations, however, are not the most common BRCA1/BRCA2 mutations in the general population. “This test provides information to certain individuals who may be at increased breast, ovarian or prostate cancer risk and who might not otherwise get genetic screening, and is a step forward in the availability of DTC genetic tests. But it has a lot of caveats,” said FDA spokesperson Donald St. Pierre. “While the detection of a BRCA mutation on this test does indicate an increased risk, only a small percentage of Americans carry one of these three mutations and most BRCA mutations that increase an individual’s risk are not detected by this test. The test should not be used as a substitute for seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors that can increase or decrease cancer risk.” After an FDA review determined that the test is accurate (i.e., can correctly identify the three genetic variants in saliva samples) and can provide reproducible results, marketing authorization was granted to 23andMe. Learn more here

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Genetically modified yeast organism

BioTech Institute Scientists Engineer Self-Destructing GMOs

January 29, 2018

Genetically modified organisms (GMOs) have the potential to help prevent the spread of diseases and increase both crop yields and nutritional value, but according to an article in Science Alert, "There's a big problem. . . . When you release altered species out into the wild, how can you prevent them from breeding with untweaked organisms living in their natural environment, and producing hybrid offspring that scientists can't control or regulate?" Synthetic biologist Maciej Maselko of the BioTechnology Institute, a Consortium member, is leading a team to solve this problem. Prof. Maselko's researchers have used the gene editing tool CRISPR-Cas9 to alter yeast microbes so they're genetically incompatible and incapable of mating with their non-GMO counterparts. They call this approach "synthetic incompatability," and it's a technique that could be used in a multitude of ways, including to curb invasive carp or increase the production of medicines derived from plants. Read the entire article here

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New Articles from Wolf, Evans on Genomics Research Ethics, Patient Rights

January 23, 2018

Two recently published articles, one written by Consortium Chair Susan M. Wolf and the other by LawSeqSM Working Group member Barbara J. Evans, grapple with important issues in genetic research ethics. The Wolf article, "The Continuing Evolution of Ethical Standards for Genomic Sequencing in Clinical Care: Restoring Patient Choice," outlines the complexities of setting policy to guide the management of incidental or secondary findings. She argues that the leading professional society for medical geneticists in the US, the American College of Medical Genetics and Genomics (ACMG), needs to change their current guideline to reflect empirically-based research on patient preferences regarding informed consent. In her commentary "HIPAA’s Individual Right of Access to Genomic Data: Reconciling Safety and Civil Rights," Prof. Evans applies the lens of civil rights law to a patient's right to view their own laboratory test results. Wolf and Evans are two of the most eminent legal scholars working on genomics research ethics; they were among the co-authors of the influential paper "Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between." 

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Jeffrey Kahn

Are Bioethicists Keeping Pace with Rapid Changes in Gene Editing?

January 17, 2018

Jeffrey Kahn, Director of the Berman Institute of Bioethics at Johns Hopkins University, joined Minnesota Public Radio host Kerri Miller today to discuss innovations in gene editing and the consequences that must be considered as it moves into clinical application. New tools like CRISPR are much more targeted than past gene therapies; molecular biology now allows the precoding of both the material and the location affected by genetic change. This raises thorny ethical questions: could these techniques go beyond curing diseases to creating genetic enhancements that could make someone stronger or faster? Could gene editing be used to advance eugenics, by making it possible to change someone's skin color? Will the benefits be widely available, or only help the wealthy and powerful? What does it mean to disabled if we have the ability to wipe out conditions like Down syndrome? Rapid advancements in gene therapy and the development of technologies that are more powerful than originally expected means carefully considered policy and clinical approaches must be put in place. Listen to the whole conversation here. Before joining Johns Hopkins, Prof. Kahn was Director of the Center for Bioethics at University of Minnesota. 

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Model of crystal structure for CRISPR-Cas9

Will 2018 Be the Year of CRISPR?

December 27, 2017

An article in MIT Technology Review notes, "In just the past few years, advances in [the gene-editing technology] CRISPR have been happening at a breakneck speed — and companies have sprung up to commercialize the technology. Now, patients in Europe and the U.S. could be treated with CRISPR-based therapies as soon as 2018." Looking at actual research, however, the picture is more mixed: trials are planned at Stanford University, for example, but have already been delayed at the University of Pennsylvania. Alexey Bersenev, director of the Advanced Cell Therapy Lab at Yale New Haven Hospital, cautions “the field is currently over-optimistic about possible results of clinical trials. . . . Every new and hot biomedical technology usually undergoes an inflated expectations phase.”

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Genomic Screening: What's Age Got to Do with It?

December 18, 2017

A new post on the Bill of Health blog discusses new research that looks at whether upper age limits should be established for population-based preventive genomic screening. These types of limits are used in other clinical screenings on the assumption that older individuals wouldn't see clinical benefits. The authors of the paper used data from the GeneScreen study to look at how age issues were perceived and valued by researchers and participants. Their findings? "While clinical benefits of preventive genomic screening for older adults are debatable, our respondents perceived a range of benefits of screening in both clinical and research settings. Researchers and clinicians should carefully consider decisions about whether to exclude older adults and whether to provide information about benefits and risks across age groups."

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Prof Susan M. WOlf

Wolf Joins TOPMed Advisory Panel

November 30, 2017

The National Heart, Lung, and Blood Institute (NHLBI) has appointed Consortium Chair Susan M. Wolf to the External Advisory Panel for the Trans-Omics in Precision Medicine (TOPMed) Program, which is dedicated to the advancement of heart, lung, blood, and sleep precision medicine. Since its launch in 2014, TOPMed has supporting whole genome sequencing and other omics platforms such as metabolomics and proteomics; the project researchers expect to have achieved a total of 150,000 whole genome sequences by the end of 2018. Research conducted on such a scale raises importance governance questions, including how best to ensure the privacy of participants' health data when it's shared with the broader research community. Prof. Wolf is a renowned expert on genomic privacy, having led several research studies that established the legally and ethically preferred methods to manage research findings from biobanks. The External Advisory Panel will provide the NHLBI Director and staff with expert guidance on TOPMed, with the goal of applying systems biology to drive the future of precision medicine.