Genomics & genetics

News

Prof. Heidi Rehm of Harvard Medical, lecturing

Rehm Calls for Open Data Sharing to Improve Genomic Interpretation

July 24, 2017

In an article published in Genetics in Medicine, Heidi L. Rehm, Director of the Laboratory for Molecular Medicine at Partners Healthcare Personalized Medicine and Associate Professor of Pathology at Harvard Medical School, calls for the sharing of variant interpretations to advance medicine and improve patient care. Reviewing the progress made over the past five years by ClinVar and other major studies, she highlights the strides than can be made when multiple laboratories collaborate on evaluating the significance of individual genes, assigning categories consistently, and allowing peer review. To that end, Rehm lays out five recommendations for regulators, agencies, providers, laboratories and others. Rehm is a frequent Consortium collaborator – she wrote a major article on improving genomic laboratory practices with Consortium Chair Susan M. Wolf and others. She also spoke about her work to define standards for the interpretation of genomic variants at a lecture hosted by the Consortium in 2015; video of that talk is available here

News

Newborn Adam Nash and older sister Molly

Child Conceived as Sister's Stem Cell Donor is Now a Teen

June 26, 2017

Adam Nash was conceived using in vitro fertilization so doctors could collect stem cells from his umbilical cord blood to save his sister Molly's life. Molly suffers from Fanconi anemia; according to her mother, Lisa Nash, who was quoted in the Minneapolis Star Tribune"Molly was dying. She was in bone-marrow failure and she had pre-leukemia. We basically used Adam’s garbage to save Molly’s life," because cord blood is discarded after birth. Adam's birth in 2000 sparked widespread discussion of the ethical dilemmas raised by genetic engineering, and was among the inspirations for the book and movie My Sister's Keeper. The treatment, which was successful, was suggested by Dr. John Wagner of Consortium member the Stem Cell Institute. Dr. Wagner is an internationally-recognized as an expert in the field of stem cells and umbilical cord blood transplantation. He was the first to use umbilical cord blood to treat a child with leukemia in 1990; since then, more than 1,300 umbilical cord blood transplants have been performed at the University of Minnesota. A related article with more background on the Nash case is available here

News

Sharon Terry

Citizen Science Pioneer Diagnoses Medical Research Shortcomings

June 22, 2017

In a newly-released TEDMED talk, Sharon Terry of Genetic Alliance describes her journey to becoming a citizen scientist after her two children were diagnosed with the genetic condition pseudoxanthoma elasticum (PXE), which causes the symptoms of premature aging. She quickly learned “that there was no systematic effort to understand PXE . . . researchers competed with each other because the ecosystem is designed to reward competition rather than alleviate suffering.” In response, Terry and her husband, Patrick, educated themselves on the disease and gathered thousands of similarly affected people to initiate studies and clinical trials. The message of her talk is that “citizen scientists, activists using do-it-yourself science, and crowdsourcing are all changing the game.” Ms. Terry is a member of the working group for the LawSeq project, which is laying the policy groundwork to translate genomic medicine into clinical application; the principle investigators are Consortium Chair Susan M. Wolf, JD; Ellen Wright Clayton, MD, JD of Vanderbilt University; and Frances Lawrenz, PhD of the University of Minnesota. Last December, the Consortium sponsored an event on patient-led medicine and citizen science; video can be viewed here.

News

LawSeq logo corrected Dec 2016

ELSI Congress Tackles the Big Questions on Genomics and Society

June 9, 2017

Earlier this week, the 4th annual conference of the National Human Genome Research Institute (NHGRI) Ethical, Legal and Social Implications (ELSI) Research Program was held in Farmington, CT. This year's focus was the many ways genomics is rapidly becoming a fixture in our lives, from prenatal genetic screening to the genetic testing of women with family histories of breast cancer. Physicians, geneticists, genetic counselors, social scientists and lawyers from academia, government and industry brought new insight and perspectives to debates over new and emerging data. Consortium Chair Susan M. Wolf, JD, moderated and presented during a session on a new, NHGRI-funded grant entitled "LawSeq: Building a Sound Legal Foundation for Translating Genomics into Clinical Application." The panelists – Gary Marchant (Sandra Day O'Connor College of Law, Arizona State University), Amy McGuire (Baylor College of Medicine, University of Texas), and Ellen Wright Clayton (School of Law, Vanderbilt University) – are all PIs and collaborators on the grant. The speakers identified areas of agreement and disagreement, and suggest pathways to advance law and policy to support the optimal use of genomics. For more information, visit the ELSI Congress website.

News

DNA graphic with doctors in the middle

Fine Print in DNA Kits May Hold Some Surprises

May 25, 2017

A report from the NBC affiliate in Boston sheds light on an aspect of mail-in DNA kits that may surprise some users: when you sign the paperwork to obtain the results, you're often granting a "perpetual, royalty-free, world-wide, transferable license" for the data. The company in this example is Ancestry, but in an interview Glenn Cohen of Harvard Law School's Petrie-Flom Center noted "that kind of language is probably buried into the informed consent or the forms you sign almost every time you've donated blood or had a blood test." In a statement, Ancestry said they will "not share DNA data with third party marketers, employers or insurance companies," and they allow users to delete their DNA results and/or ask the company destroy the sample from which the results were derived. They also store your DNA without your name. However, these policies are not included in the contract users of Ancestry DNA are required to sign. Consumer protection attorney Joel Winston is quoted in Slate saying “Even if you’ve never used Ancestry.com, but one of your genetic relatives has, the company may already own identifiable portions of your DNA.” Issues related to shared family genomics and privacy have been explored by Consortium Chair Susan M. Wolf and her co-investigators, resulting in a major symposium on the subject. 

News

Logo for Open SNP web platform

New Research Explores Public Genomic Data Sharing

May 10, 2017

A new paper just published in PLOS ONE examines the motivations and characteristics of people who openly share the results of direct-to-consumer genetic testing using the web platform OpenSNP. The team of authors, who are affiliated with the University of Zurich, University of Cambridge, and Goethe University in Frankfurt, found those who shared their data were motivated by a desire to learn more about themselves; to advance medical research and improve genetic testing; and because they considered it fun. The researchers noted "Whereas most respondents were well aware of the privacy risks of their involvement in open genetic data sharing and considered the possibility of direct, personal repercussions troubling, they estimated the risk of this happening to be negligible." Among the paper's authors was Effy Vayena, who spoke at the Consortium's recent conference on research ethics. You can see her talk here.

News

Woolly mammoth

Can Mammoths Save the World from Climate Change?

May 3, 2017

Over the past 20 years, a preserve known as Pleistocene Park has been created in Siberia with the goal of restoring grasslands once home to megafauna like mammoths. The theory behind the park, as described in The Atlantic, is that restoring the wildlife inhabiting it more than 12,000 years ago will create an ecosystem that will slow the thawing of Arctic permafrost, which has more carbon locked in it "than there is in all the planet’s forests and the rest of the atmosphere combined." Two scientists, a father and son named Sergey Zimov and Nikita Zimov, have dedicated their lives to clearing the forests that now cover the Mammoth Steppe by reintroducing species such as musk oxen, wild horses and other large herbivores. However, they need mammoths, "a keystone species on account of their prodigious grazing, their well-digging, and the singular joy they seemed to derive from knocking down trees." The project has inspired geneticist George Church to accelerate his research, which uses the CRISPR genome-editing technology to attempt the creation of a close relative of the mammoth. The article notes, "Nikita and Sergey seemed entirely unbothered by ethical considerations regarding mammoth cloning or geoengineering. They saw no contradiction between their veneration of 'the wild' and their willingness to intervene, radically, in nature." According to Nikita Zimov, “Playing God doesn’t bother me in the least. We are already doing it. Why not do it better?” Read the entire article here

News

Scythian horse illustration

Ancient Horse DNA Illuminates Domestication Process

April 27, 2017

A DNA analysis of 14 horse skeletons preserved in Russian and Kazakh sites reveals the Scythians, who ruled the area more than 2,000 years ago, were sophisticated breeders. Fierce, nomadic warriors, the Scythians are believed to be among the first to ride horses into battle, helping extend their territory over large parts of Eastern Europe and Central Asia. The remains of the horses who were studied were preserved in permafrost, allowing an international team of researchers to perform the whole genome sequencing revealing that "the Scythians bred for certain characteristics: stockier forelimbs that were thicker and shorter. The horses also had genes for retaining water, perhaps indicating that the mares were milked for human consumption." The New York Times article notes, "The findings also fit an emerging theory of how domestication in general changes animals as they become intertwined with humans." 

News

FDA logo

FDA Approves Direct-to-Consumer Genetic Tests

April 6, 2017

In a turnaround for the Food and Drug Administration (FDA), the agency has announced it will "allow a company to sell genetic tests for disease risk directly to consumers," according to the New York Times23andMe, a private genomics and biotechnology company based in Mountain View, California, pioneered products to allow customers to learn about their genome without the involvement of a doctor, genetic counselor or other health care professional. There are two levels of test offered; the default will only include the gene variants that could lead to the development of 10 rare conditions such as factor XI deficiency, Gaucher disease type 1 and celiac disease. For the genes associated with illnesses such as Parkinson's and Alzheimer's, there is a separate track that includes access to genetic counselors. An attempt by 23andMe to offer similar direct-to-consumer tests in 2013 was quashed by the FDA because of concerns about how patients might misinterprete potentially bad news without professional guidance. However, according to Dr. Robert C. Green, a Consortium collaborator who has researched the matter, studies since then have "there is some potential for distress, but it is much, much smaller than was anticipated.” Read the entire article here

News

National Football League logo

The Ethics of Football: NFL Player Health Policies Examined

February 1, 2017

Just in time for next Sunday's Superbowl game, a new paper published in the University of Pennsylvania Law Review explores the legal and ethical aspects of a hypothetical National Football League (NFL) player's health. The authors, who include Consortium collaborator I. Glenn Cohen of Harvard Law School, ask "What are the current legal standards for employers collecting and acting on an individual’s health- and performance-related information?" They draw upon disability law, privacy law and other disciplines to provide recommendations to better protect the health and privacy of professional football players. The authors find that "it appears that some of the existing evaluations of players, both at the NFL Scouting Combine (Combine) and once drafted and playing for a club, seem to violate existing federal employment discrimination laws." To correct this, they recommend both adherence to current laws and changes to existing statutory schemes. Read the entire article here

News

Turkey

Poultry DNA Sequencer a Powerful Tool in Antibiotic Resistance Research

December 21, 2016

A state-of-the-art genetic analysis tool has been deployed to Willmar, Minnesota, the heart of the state's burgeoning turkey business. According to an article in Agweek, beginning in 2017 the Food and Drug Administration (FDA) is implementing new restrictions that change how livestock producers use antibiotics in feed to promote growth. The action is being taken to address growing concerns that antibiotic resistance could threaten public health. Veterinary science professor Tim Johnson is leading the project, which is housed at the U's Mid-Central Research and Outreach Center. According to Johnson, the DNA sequencer "will improve the speed and the resolution of our ability to detect pathogens of the bad bacteria and the bad viruses" by helping researchers understand how pathogens travel and examining "emerging diseases of poultry and other animals to be able to quickly identify what's causing problems." The Consortium is hosting a three-part series on a related topic, Emerging Diseases in a Changing Environment, starting on Jan. 24; learn more and register here

Publication

O'Daniel JM , McLaughlin HM , Amendola LM , Bale SJ , Berg JS , Bick D , Bowling KM , Chao EC , Chung WK , Conlin LK , Cooper GM , Das S , Deignan JL , Dorschner MO , Evans JP , Ghazani AA , Goddard KA , Gornick M , Farwell Hagman KD , Hambuch T , Hegde M , Hindorff LA , Holm IA , Jarvik GP , Knight Johnson A , Mighion L , Morra M , Plon SE , Punj S , Richards CS , Santani A , Shirts BH , Spinner NB , Tang S , Weck KE , Wolf SM , Yang Y , Rehm HL . A Survey of Current Practices for Genomic Sequencing Test Interpretation and Reporting Processes in US Laboratories. Genetics in Medicine 2016;18(11). Download PDF (638.01 KB)

News

Pamala Jacobson, Professor of Pharmacy

Pamala Jacobson Named Distinguished Pharmacy Professor

October 17, 2016

Consortium collaborator Pamala Jacobson, PharmD, FCCP, has been named a Distinguished Professor under the Pharmacy Scholars program. Prof. Jacobson's appointment grants her the "Distinguished Professor" title and $10,000 a year salary augmentation for a five-year period. The principal criteria for the award are the duration and significance of the person's contributions to the development of his/her discipline, and the impact of the person's scholarly endeavors on a national and international level. Prof. Jacobson is a renowned clinician, scientist, and national leader in clinical pharmacology. In her pharmacogenomics research program, she studies how to effectively use genetic and other biomarkers to improve drug efficacy and reduce toxicity. She has been a leader in the emerging field of precision medicine, serving as director of the University's Institute of Personalized Medicine and as one of four Principal Investigators of the Minnesota Precision Medicine Collaborative (MPMC), along with Consortium Chair Susan M. Wolf, JD; Ellen Demerath, PhD; and Kingshuk Sinha, PhD. You can view video of her commentary on Rex Chisholm's 2015 lecture, "Integrating Electronic Health Records and Genomics for Discovery and Implementation: The eMERGE Experience," which was sponsored by the Consortium, here

Research

News

Red and blue abstract people figures with magnifying glass

Consortium Chair, 3 Colleagues Awarded Grand Challenges Research Grant

September 29, 2016

Consortium Chair Susan Wolf and three Co-Investigators – Profs. Pamala JacobsonKingshuk Sinha, and Ellen Demerath – on behalf of the Working Group on Advancing Health Through Tailored Solutions, have been awarded a Grand Challenges grant from the Office of the Provost to establish the Minnesota Precision Medicine Collaborative (MPMC). This 2-year, $500,000 grant will fund creation of a transformative University-wide initiative to use 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. This precision medicine approach will fundamentally alter our understanding of health, disease prevention, and treatment. Core to this project is partnering with citizens, patients, and healthcare providers to understand and effectively address major health problems. MPMC will create a living laboratory, starting with demonstration projects on Alzheimer’s disease, lung cancer, and depression. All three are diseases whose incidence, burden, and mortality rates reveal disturbing health disparities. This focus will enable us to leverage U of M research strengths across many disciplines and to engage with partners in the health industry and Minnesota’s underserved communities. By investing in the development and delivery of precision medicine, our university will contribute to the national effort to transform science, medicine, and public health through more precise understanding of the factors contributing to health and disease. MPMC aims to make a unique contribution through collaborative research, cutting-edge innovation, responsible policy, and sustained commitment to improving health equitably across our communities.    

News

Prof. Suma Jacob

DNA-based Autism Research May Support Early Interventions

September 28, 2016

A growing amount of evidence points to the importance of early behavioral interventions in the treatment of autism. However, health professionals typically won't diagnose the disorder sooner than 18 months, and often much later. To help close this gap, a major, national research study is being led in Minnesota by Prof. Suma Jacob, MD, PhD, of Consortium member the Center for Neurobehavioral Development. The study, SPARK, has the goal of collecting DNA and other data from 50,000 people with autism and their family members. An article in MinnPost quotes Prof. Jacob as saying "There have been studies that have shown that there are strong heritable components in autism. . . . What’s exciting about [SPARK] is we know that we need to gather a large number of families with autism to find as many potential connections as possible. We are in the process of collecting that large sample." She cautions, however, "The disorder is different in each individual. . . . Generalizations just don’t fit."

News

Cancer Moonshot logo

Cancer Moonshot Announces Next Steps for Transformative Research

September 8, 2016

In his 2016 State of the Union address, President Barack Obama announced the Cancer Moonshot, an intensive research collaborative to accelerate immunotherapy as an effective treatment for cancer patients. Led by Vice President Joe Biden, doctors, patients, researchers, pharmaceutical companies, insurance companies, and technologists are striving to managing cancer as a chronic condition, like diabetes, rather than a devastating and life-threatening illness. Last June, Consortium member center Masonic Cancer Center hosted a local event that was part of the national launch of the Moonshot, which featured remarks by VP Biden and US Senators Amy Klobuchar and Al Franken. Yesterday, a Blue Ribbon Panel released its roadmap for the effort, recommending 10 transformative research approaches for achieving major strides in cancer prevention, diagnosis and treatment by 2020. The report can be read here.

News

Model of crystal structure for CRISPR-Cas9

There's More Than One Way to Edit a Gene

August 15, 2016

The gene-editing technique known as CRISPR has generated immense excitement for enabling scientists to alter genomes "with unprecedented precision, efficiency and flexibility," in hopes of accelerating cures for genetic diseases. However, while CRISPR has been receiving the lion's share of attention in the media, a new article in Scientific American outlines its limitations: as researchers have used CRISPR, particularly the Cas9 tool, they've been reminded "how fragile every new technology is," according to George Church of the Harvard Medical School. The article describes several alternatives that researchers hope will offer more precise pathways for rewriting DNA, which plant scientist Daniel Voytas of the University of Minnesota notes is essential to the advancement of the field: “Everyone says the future is editing many genes at a time, and I think: ‘We can’t even do one now with reasonable efficiency.'" Each month seems to bring new advances in the field: read the article, which provides an up-to-date overview of what's happening, here

News

LawSeq logo stacked

LawSeqSM to Clarify Consent, Standards, Liability in Genomic Medicine

July 6, 2016

An article in GenomeWeb provides a comprehensive overview of the LawSeqSM project, a 3-year, $2 million grant recently awarded to Consortium chair Susan M. Wolf, JD, and two co-PIs, Ellen Wright Clayton, MD, JD (Vanderbilt) and Frances Lawrenz, PhD (University of Minnesota). The methodology will be a "combined approach involving empirical work, analytic research, and negotiation to reach consensus" within the national working group; the effort will also be informed by prior research in the field of genomic medicine by both Wolf and Clayton. The resulting guidelines will inform case law, fill gaps in current regulations and shape those developed in the future. Another important outcome will be "a public-facing website that simply describes in detail the current state of the law in relation to genomics and genome sequencing."