Genomics & genetics

Research

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Return of Genomic Results and Estimating Penetrance in Population-Based Cohorts

This study will develop and implement a genomic return of result (gRoR) process in the Framingham Heart Study and Jackson Heart Study cohorts and explore associated medical, behavioral and economic outcomes. The study will also explore ways to automate and streamline genomic variant interpretation at scale, and pursue novel analysis techniques for aggregating data to aid assessment of penetrance. The discoveries generated will provide guidance for gRoR for large-scale population studies and biobanks, including underrepresented minority participants.

Publication

News

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Profs. Wolf and Clayton Moderate Panel at 2019 Health Law Professors Conference in Chicago: LawSeq: Building a Legal Foundation for Genomics & Precision Medicine

July 8, 2019

Professor Susan M. Wolf, JD (University of Minnesota) and Professor Ellen Wright Clayton, JD, MD (Vanderbilt University), recently moderated a panel discussion on “LawSeq: Building a Legal Foundation for Genomics & Precision Medicine” at the 2019 Health Law Professors Conference, sponsored by the American Society of Law, Medicine & Ethics and Loyola University Chicago School of Law. Panelists included Professor Barbara J. Evans, LLM, JD, PhD (University of Houston), Professor Gary Marchant, JD, MPP, PhD (Arizona State University), and Professor Mark Rothstein, JD (University of Louisville). Based cooperatively at the University of Minnesota and Vanderbilt University Medical Center, the LawSeqSM project has convened a national working group of top legal and scientific experts to compile, collect, and analyze current US federal and state law and regulation on translational genomics. Read More

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Gene Patent Policy Under Review by Congress

June 6, 2019

A new article in Wired by Megan Molteni describes potentially momentous changes in the legal status of gene patents. According to Molteni, "In 2013, the Supreme Court unanimously struck down patents on two human genes – BRCA1 and BRCA2 – associated with breast and ovarian cancers. Justice Clarence Thomas wrote for the court at the time that isolated DNA 'is a product of nature and not patent eligible.' The historic decision invalidated patents held by Myriad Genetics" and opened the way for companies like 23andMe to offer direct-to-consumer tests of BRCA and other genes. A new bill making its way through Congress would make "changes to several sections of the statutes covering patent law and [add] a provision that would nullify the Supreme Court’s exceptions." The congressional debate is driven by concerns that overly stringent patent rules are hindering US companies from creating potentially lucrative new diagnostic tools, allowing rivals like China to outpace American innovation. Hearings are currently underway to clarify the intention of the bill and ensure it effectively addresses industry concerns. Read the entire Wired article here, and one on the same topic from GenomeWeb here. For more information about genomics law and policy, visit the NIH-funded LawSeqSM website, created by the Consortium in collaboration with Vanderbilt University. 

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LawSeq Conference Videos Now Available

May 29, 2019

Videos of all sessions of the LawSeqSM conference are now available. This event brought together an eminent group of scientists, researchers, attorneys and clinicians on the campus of the University of Minnesota to grapple with gaps and areas of confusion in genomic law. The symposium was part of the LawSeqSM project, an NIH-funded effort to shape the future of law and policy to encourage the translation of genomic medicine ​from lab to clinic. View the conference videos here. A related resource is the LawSeqSM genomic law website, which includes a searchable database of relevant state and federal law as well as articles and commentaries to provide context. 

Publication

News

International Germline Editing Commission Launched

May 22, 2019

The US National Academies of Science, Engineering and Medicine and the Royal Society of the UK have announced the formation of an expert group to develop a framework to guide scientists, clinicians and regulators in their use of human germline genome editing. According to the release, "The commission is the latest action from the international science community to address issues around human genome editing. It follows [last November's] Second International Summit on Human Genome Editing in Hong Kong," where scientist He Jiankui shocked attendees by revealing the birth of twins whose genomes had been edited. Germline editing is of particular concern because genetic changes will be passed down to future generations, greatly expanding the potential for disastrous, unanticipated outcomes. “'These revelations at the summit in Hong Kong underscore the urgent need for an internationally accepted framework to help . . . address the complex scientific and medical issues surrounding clinical use of germline genome editing,' said NAM President Victor J. Dzau and Royal Society Vice-President John Skehel, co-chairs of the commission’s international oversight board, in a joint statement." The law and policy related to clinical uses of genomic medicine are among the topics addressed in the LawSeqSM project, co-led by Consortium Chair Susan M. Wolf. Learn more about relevant, existing regulations here

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Science, Wired Feature LawSeq Conference

May 1, 2019

Two major media outlets have run coverage of last week's LawSeqSM conference and webcast, held on the University of Minnesota campus. Science Magazine focused on the difficulty of accurately interpreting genomic variants, and the legal liability claims that could result. The article quotes Prof. James Evans (University of North Carolina), a member of the LawSeqSM working group: “The genome is static, but our ability to analyze it and interpret it is undergoing dramatic change. We don’t understand most of these variants, nor their potential impact on health and diseases . . . and we change our minds a lot, which is kind of frightening for patients.” In Wired Magazine, the writer homed in on genetic privacy, including observations by Mark Rothstein (University of Louisville), also a member of the working group. He stated, “In the US we have taken to protecting genetic information separately rather than using more general privacy laws, and most of the people who’ve looked at it have concluded that’s a really bad idea." Rothstein contrasted US laws and policy with those of the European Union, where DNA is treated as personal data. The LawSeqSM conference is part of an NIH-funded project to map the law of genomics for translation from laboratory into clinical settings. Learn more about LawSeqSM here

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Sharon F. Terry

Terry, Yee Illuminate Opportunities, Challenges of Citizen-Driven Research

January 31, 2019

On Jan. 29, Sharon F. Terry​, MA​ (Genetic Alliance)​ and Douglas Yee, MD (Masonic Cancer Center, University of Minnesota)​ engaged in a lively conversation about the promises and pitfalls of research that's driven by citizen scientists and patient advocates. The wide-ranging discussion touched on Terry's own path to conducting research because her children's rare disease diagnosis. She's gone on to establish infrastructure and provide guidance for others who want more ownership of the research process and operate outside of traditional scientific channels. Dr. Yee added his perspective as a cancer researcher and clinician. The event was moderated by Susan M. Wolf, JD, Consortium Chair. Video of the webcast is available here.

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Sharon F. Terry

Terry Recognized for Major Contributions to Precision Medicine

February 26, 2019

Sharon F. Terry, CEO of the Genetic Alliance, has received an award at the 10th annual Precision Medicine World Conference, held in Santa Clara, CA. She was recognized for "initiating the movement to build systems for individuals to access and share health data." Terry was a stay-at-home mom when she noticed some unusual spots on the sides of her daughter’s neck. Her two children were subsequently diagnosed with pseudoxanthoma elasticum (PXE), a rare, incurable and progressive disease. This devastating prognosis led Terry and her husband, Patrick – both non-scientists – on a quest to discover treatments. She went on to become the first-ever patient advocate to be recognized as a co-inventor on a gene patent, and has since served in leadership roles for many major organizations, including the federal All of Us Research Program. Ms. Terry was the featured speaker on a Consortium-sponsored webcast in late January; the topic was "Consumers in the Lead: Transforming Research and Health." Video of that webcast is available here

Publication

News

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Genomic Equity Conference Videos Now Available

January 10, 2019

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. Perspectives and research were shared by leading African American, Native American and Latino scholars, as well as those involved in immigrant rights and other civil rights issues. This national symposium is the first to discuss legal, policy, community outreach and clinical approaches to ensure that genomic medicine advances health equity and avoids worsening health disparities. The event was presented by the Meharry-Vanderbilt Alliance, Vanderbilt University Medical Center, the Consortium, and the Minnesota Precision Medicine Collaborative, and is part of the NIH-funded LawSeqSM project, which is dedicated to building a sound legal foundation for translating genomics into clinical application. View videos of conference sessions on our YouTube channel

Research

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Minnesota Precision Medicine Collaborative (MPMC) II: Toward Pharmacogenomics-Enabled Healthcare at Statewide Scale — Implementing Precision Medicine

MPMC’s new initiative is among the six interdisciplinary projects selected to receive Grand Challenges Research Interdisciplinary Team Awards from the Office of the Executive Vice President and Provost. MPMC II focuses on one of the most mature domains of precision medicine – pharmacogenomics (PGx), which despite its proven scientific basis and immense promise has not yet been widely implemented in healthcare systems. 

News

Pills in the form of a DNA spiral

Wolf, Co-PIs Awarded Grand Challenges Pharmacogenomics Grant

January 28, 2019

The University of Minnesota's Grand Challenges Research Initiative (GCRI) has awarded a grant to a team led by Co-PIs Pamala Jacobson, Constantin Aliferis, Catherine A. McCarty, and Consortium Chair Susan M. Wolf. The funding will support an ambitious project entitled, "Toward Pharmacogenomics-Enabled Healthcare at Statewide Scale: Implementing Precision Medicine." In 2016, the University of Minnesota established the GCRI as part of its Strategic Plan. During the initial round of funding, the Minnesota Precision Medicine Collaborative (MPMC) was created to pioneer the use of 21st century technologies – including genomics, informatics, bioengineering, analysis of environmental exposures, and behavioral sciences – to tailor health care to the challenges facing individuals and their communities. The new grant, MPMC II, will extend the MPMC's work in creating interdisciplinary approaches to translate precision medicine research into clinical use. For more on MPMC II, click here

News

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CRISPR Babies Stun the World, Provoke Ethical Controversy

December 27, 2018

As 2018 comes to a close, one of the year's most startling scientific developments was the announcement of gene-edited twin girls born in China. While the promise and power of the technique known as CRISPR have long been known, scientists and policymakers have emphasized resisting the temptation to use it on human embryos. That is, however, precisely what He Jainkui did, as described in an article in Wired. He's attempt to contain the firestorm of criticism by proposing "a core set of fundamental human values to frame, guide and restrict clinical applications" of gene editing failed miserably, putting a point on the fact that "there are no actual international rules" for use of the technique. The primary ethical concern is limited understanding of the effects of so-called "germline editing," which is heritable and can be passed to future generations. Beyond doubts about the effects of CRISPR on the twin girls, Wired notes, "He’s research raises the spectre of gene-editing enhancements, designer babies if you will, such as making a person taller or smarter before birth," possibly heralding a new era of human-created genetic inequality. 

News

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'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."