Genomics & genetics

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Santa Claus with 2 kids on his lap

'Sensory Santa' for Kids with Autism Will Help Find Participants for SPARK Study

December 13, 2018

The Center for Neurobehavioral Development, a Consortium member, is using an unusual partner  Santa Claus  to raise awareness of SPARK, the largest autism genetics study in the nation. According to a story from Minnesota Public Radio (MPR), the Center is hosting a Sensory Friendly Santa event this coming Saturday, Dec. 15, from noon-4. Dr. Suma Jacob, who helped organize the event, notes, "It varies for different individuals but one way to describe [sensory sensitivity] is that some people can hear almost every noise around them and have a difficult time blocking it out. . . . Our Santa has worked with kids with autism and other developmental disabilities. Santa will be mindful to wait for the child to approach instead of taking the lead." Dr. Jacobs leads the University of Minnesota SPARK team, and explains that one goal of the event is to let families know about the study and how they can participate. According to MPR, "As part of the study, children will be able to give saliva samples instead of having their blood drawn, which can often be especially traumatic for children with sensory sensitivities."

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DNA strand with magnifying glass

Wolf Describes Policy Solutions for Future of Genomic Medicine

December 11, 2018

The latest issue of Minnesota Medicine features an article by Consortium Chair Susan M. Wolf about the legal and regulatory underpinnings needed to advance genomic medicine. It is part of a special issue on the future of medicine, and provides an overview of the NIH-funded LawSeqSM project Wolf co-leads with Ellen Wright Clayton (Vanderbilt University) and Frances Lawrenz (University of Minnesota). LawSeqSM is dedicated to analyzing current US federal and state law and regulation on translational genomics. Results of the effort will be the development of consensus guidance on what the law should be, as well as the creation of a website aggregating the statutes, regulations and case law related to genomic medicine. The Minnesota Medicine article was co-authored by Kathryn Grimes, Communications Director for the Consortium.

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Prof. Heidi Rehm of Harvard Medical, lecturing

ClinGen Database Validated by FDA

December 6, 2018

ClinGen, a public genomic variant database, has been formally recognized by U.S. Food and Drug Administration (FDA) as a source of "valid scientific evidence that can be used to support clinical validity." This step is significant because it certifies that ClinGen provides accurate, accessible data to researchers who are developing genetic tests to help increase understanding of the causes of disease by researchers and health care providers, with the ultimate outcome of improving patient care. According to the FDA, "ClinGen brings together more than 700 clinical and research experts to develop standard processes for reviewing data and genetic variants and their connections to health and disease. The experts who are part of the consortium determine how each variant is associated with a specific hereditary disease or condition and make that information available for unrestricted use in the community." The Principal Investigator for the ClinGen project is Heidi Rehm; she outlined the need for undertaking this work and the challenges to correctly interpreting genetic variants in a Consortium-sponsored lecture you can view here

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Prof. Consuelo H. Wilkins

"Law, Genomic Medicine & Health Equity" Event Tackles Policy Needs

December 3, 2018

On Thursday, Nov. 29 a group of eminent scholars and researchers convened at Meharry Medical College in Nashville to evaluate the current state of precision medicine and how access to it can be improved. Conference presenters shared a wide-ranging array of information about obstacles and solutions to delivering genomic medicine in clinical settings, with a particular focus on policies to promote health equity. The event, which involved several dozen in-person attendees and 200 webcast viewers, concluded with a talk by Consuelo H. Wilkins (Meharry-Vanderbilt Alliance). Prof. Wilkins described her work with the federal All of Us Research Program, for which she serves as head of the Engagement Core. She emphasized the need to address the underrepresentation of minority populations in research, as well as mistrust and limited genomic literacy. One of the important takeaways from Prof. Wilkins' talk was the need to reframe the benefits to research participants of collaborating in studies, from returning results to returning value – that is, information these communities find useful. The event was presented by the Meharry-Vanderbilt Alliance, Vanderbilt University Medical Center, the Consortium, and the Minnesota Precision Medicine Collaborative. A special symposium based on the conference will be published in and issue of Ethnicity & Disease guest edited by Marino Bruce (Vanderbilt University), Vence L. Bonham (National Human Genome Research Institute - NHGRI) and Consortium Chair Susan M. Wolf (University of Minnesota). Video of conference sessions will be posted in the next 10 days; to receive notification, please email consortm@umn.edu

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CONSORTIUM chp genetics people overlay

Groundbreaking Case Hinges on Family Genetic Privacy, Access

November 26, 2018

Doctors at a London hospital are being sued "because they failed to tell [a woman] about her father’s fatal hereditary disease before she had her own child," according to the Guardian. "The woman discovered – after giving birth – that her father carried the gene for Huntington’s disease, a degenerative, incurable brain condition. Later she found out she had inherited the gene and that her own daughter, now eight, has a 50% chance of having it. The woman. . .  says she would have had an abortion had she known about her father’s condition, and is suing the doctors who failed to tell her about the risks she and her child faced. It is the first case in English law to deal with a relative’s claim over issues of genetic responsibility." Much of the groundwork for US legal and policy approaches to these complicated issues can be found in a symposium, "Should We Offer Genomic Research Results to a Participant's Family, Including After the Participant's Death?" edited by Consortium Chair Susan M. Wolf, Barbara A. Koenig (UCSF) and Gloria M. Petersen (Mayo Clinic). The symposium grew out of an NIH-funded grant, "Disclosing Genomic Incidental Findings in a Cancer Biobank: An ELSI Experiment," for which Wolf, Koenig and Petersen served as Principal Investigators. 

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Porter KM , Kauffman TL , Koenig BA , Lewis KL , Rehm HL , Richards CS , Strande NT , Tabor HK , Wolf SM , Yang Y , Amendola LM , Azzariti DR , Berg JS , Bergstrom K , Biesecker LG , Biswas , Bowling KM , Chung WK , Clayton EW , Conlin LK , Cooper GM , Dulik MC , Garraway LA , Ghazani AA , Green RC , Hiatt SM , Jamal SM , Jarvik GP , Goddard KAB , Wilfond BS . Approaches to Carrier Testing and Results Disclosure in Translational Genomics Research: The Clinical Sequencing Exploratory Research (CSER) Consortium Experience. Molecular Genetics & Genomic Medicine 2018;0:1-12. PDF icon Download PDF (932.77 KB)

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Cathy Wurzer with speaker at Mayo conference Sept 2018

Mayo Genomic Medicine Conference Asks: Hype or Hope?

September 17, 2018

At a conference held last week at the Mayo Clinic, health care professionals discussed the promise and limits of genomic (also known as precision) medicine. According to the Star Tribune, while optimism is justified, Dr. Michael Joyner of Mayo cautioned that "'I like to tell people to drink the Kool-Aid in small doses.' He described a 'hype-filled biomedical narrative' that, he argues, has led people to believe that genetic medicine has accomplished more than it really has." Mayo is participating in the federal All of Us Research program, in which 100 health care organizations in the US are collecting genetic information for one million people. A free conference and national webcast being held in Nashville on Nov. 29 will take the discussion of genomic medicine a step further, focusing on legal and policy solutions to ensure precision medicine doesn't exacerbate health inequities. That event, "Law, Genomic Medicine & Heath Equity" is co-sponsored by the Meharry-Vanderbilt AllianceVanderbilt University Medical Center, the Consortium on Law & Values in Health, Environment & the Life Sciences and Minnesota Precision Medicine Collaborative. Learn more and register here

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Brain with Alzheimers

Alzheimer's Research Uses Innovative Clinical Design, Precision Medicine Tools

September 5, 2018

Recent research has raised hopes that new drugs can help slow or reverse the symptoms of Alzheimer's disease. While promising breakthroughs abound in this arena, what distinguishes the development of one of these drugs, BAN2401, was the clinical trial's "adaptive design." That approach "ensured that when new subjects were recruited, they were more likely to be assigned to arms of the trial that showed the greatest promise," according to the Los Angeles Times. Advocates for adaptive design note it can make clinical trials more flexible, efficient and ethical because it makes effective treatments more readily available to patients. Critics are concerned that such adaptation opens the door to biased studies. To read a recent symposium on challenges to the conduct of high-quality laboratory research, click here. The other promising drug, Anavex 2-73, was developed using precision medicine approaches. "Researchers [focused on studying a small group of] Alzheimer’s patients who bear a few 'actionable genetic variants.'" These variants were identified by genomic sequencing intended to find participants most likely to have a positive response to the drugs. On Nov. 29, the Consortium is co-sponsoring a free, public conference and webcast, "Law, Genomic Medicine & Health Equity" that will discuss some of the implications of precision medicine for traditionally underserved populations; co-sponsors are the Meharry-Vanderbilt Alliance, Vanderbilt Health, and the Minnesota Precision Medicine Collaborative. The event will be held at Meharry Medical College in Nashville, TN; to learn more and register, click here

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DNA strands

DNA Testing Being Used to Reunite Families Separated at Border

July 9, 2018

According to an article in Scientific American, "Several DNA testing companies have volunteered their services to help reunite immigrant families separated at the southern U.S. border. But scientists and ethicists warn broad-based genetic tests are 'overkill' and do not make sense for making such matches." Consortium chair Susan M. Wolf is among them; she raises concerns about whether permission to undergo genetic testing in such circumstances is really given freely, one of the core requirements for obtaining informed consent — the article notes, "a parent faced with not getting their child back if they do not get a genetic test really has no option." Wolf goes on to point out problems with defining "family" solely by biological relationship: “What about the loving long-time caregiver who may not be genetically related to that child? Those families deserve reunification, too.” Despite such concerns, The Atlantic reports that the US Department of Health and Human Services announced last week that it will conduct DNA tests in an attempt to comply with a court order from the US District Court in San Diego. The court declared that all minors from separated families need to be reunited with their parents or guardians by July 26. 

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Why is DTC Genetic Testing Booming Despite a Lack of Privacy Protections?

June 21, 2018

An article published in Slate as part of their Future Tense project provides a valuable overview of the current state of privacy protections for those who use direct-to-consumer (DTC) genetic tests: "There’s a basic asymmetry at work in genetic testing: It takes just a few minutes to put some spit into a vial, sign a few disclosure forms, and pop your saliva in the mail. But that little bit of spit can yield volumes of deeply intimate data about your body. As Undark Magazine has reported in the past, that information can last for decades. It can be subpoenaed in court. It can be stolen. And it can be bundled and sold as a commodity. . . . Unlike genetic data collected in a hospital, the information that direct-to-consumer tests gather about you is not subject to the Health Insurance Portability and Accountability Act, or HIPAA, which places restrictions on how health care providers can share information about patients. State laws offer some regulations, but they vary widely from state to state." DTC genetic tests are among the topics being studied as part of the LawSeqSM project, for which Consortium chair Susan M. Wolf is one of the PIs; Barbara J. Evans (University of Houston Law Center), a member of the LawSeqSM working group, is quoted in the article. Learn more about the project here.

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