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Defining Best Clinical Practices in Genomic Testing of Healthy Individuals


Applications of genomic testing have increased significantly and the model for integration into healthcare is evolving. Traditionally, genomic testing is initiated and managed by genetic professionals. Rapidly decreasing costs have increased demand for genetic testing in non-traditional areas, including use in healthy individuals to predict and prevent disease (termed “elective genomic testing”). This shift requires re-calibration of many established paradigms and careful evaluation of whether and how our current knowledge, which has been informed by indication-driven testing, can be applied in a predictive setting. While the medical community has intensified this debate, the demand for predictive testing is quickly increasing and a growing number of laboratories are offering tests for healthy individuals, ranging from targeted panels for actionable genes to whole genome sequencing. Guidance from professional societies is now urgently needed to educate consumers, physicians, and laboratories.

With the recent statement from the ACMG Board of Directors titled “Should secondary findings in genetics be used for general population screening?” (PMID 31019278), it is timely to discuss elective genomic testing. For the first 15 minutes of the session, Birgit Funke will set the stage by providing a historical perspective and foundational information about delivery models of genetic information in healthy individuals. This will include defining terminology, regulatory frameworks and outlining key issues that need professional community consensus (such as defining what types of results should be returned to healthy individuals given our limited understanding of their positive predictive value as well as penetrance in this population). Subsequently, four speakers will share data-driven and experience-based viewpoints. The session will conclude with 45 minutes of a panel discussion guided by audience questions supplemented by group-polling tools (audience response system) and pre-prepared questions as needed.

Speakers for this session include David Bick, who published a paper in 2019 (PMID 30453057) proposing a framework to evaluate both analytical and interpretative components of genomic tests and illustrates how it can be used in the expanding landscape of elective genomic testing. He will place this in the context of the evolution of his own practice as a medical provider. Marc Williams, who has been spearheading implementing genetics, genomics and family history in routine clinical care, including evaluating the impact of next generation sequencing on an unselected patient population through the MyCode Community Health Initiative. Jonathan Berg will share viewpoints from his recent papers (PMID 26540154 and 30260288) discussing the promise and peril of genomic screening including overdiagnosis in the general population. Finally, Mark Caulfield will describe the initiative by Genomics England to advance large scale elective genomic testing in England. He will address multiple aspects including sample acquisition, return of results, equity of care, legal challenges, and ethical considerations. All speakers will then participate in the concluding panel discussion.


  • Jennelle C. Hodge, PhD.

    Indiana University School of Medicine, Indianapolis, IN, USA.

  • Birgit Funke, PhD, FACMG.

    PCPGM, Newton, MA, USA.

  • David -. Bick, MD, FACMG.

    David Bick, MD, is the Chief Medical Officer and a Faculty Investigator at theHudsonAlpha Institute for Biotechnology, the Medical Director of The SmithFamily Clinic for Genomic Medicine, LLC., and a Laboratory Director in theHudsonAlpha Clinical Services Laboratory, LLC. He comes to Hudson Alpha from the Medical College of Wisconsin where he was a professor in the department of pediatrics and the department of obstetrics and gynecology.At the Medical College of Wisconsin, he was the director of the ClinicalSequencing Laboratory at Medical College of Wisconsin; director of theAdvanced Genomics Laboratory at Children’s Hospital of Wisconsin; medical director of the Genetics Clinic at Children’s Hospital of Wisconsin; and chief of the division of genetics in the department of pediatrics at Medical College of Wisconsin. Bick received his medical degree from George Washington University School of Medicine in 1981 and completed his residency in pediatrics at Yale-NewHaven Hospital in New Haven, Conn. At the Yale University School ofMedicine, Bick completed a fellowship in human genetics and pediatrics in1986, followed by a postdoctoral research fellowship in human genetics in1987. Bick is board-certified in pediatrics, clinical genetics and clinical molecular genetics.As a leader in the field of genomic medicine, Bick has published numerous peer-reviewed articles, chapters and reviews. Bick’s laboratories at theMedical College of Wisconsin and Children’s Hospital of Wisconsin were the first in the world to offer whole genome sequencing as a clinical test.

  • Marc S. Williams, MD, FACMG.

    Marc S. Williams, MD, FAAP, FACMG, FACMI is a clinical geneticist. He is the director of Geisinger’s Genomic Medicine Institute. He is the co-PI of the Geisinger eMERGE project and is the medical director of the whole genome sequencing clinical research project. He is site PI and leads the EHR workgroup of the NHGRI funded ClinGen project. He is on the NHGRI Genomic Medicine working group. He has participated in the Personalized Medicine Workgroup of the Department of Health and Human Services’ American Health Information Community Task Force and was a member of the Secretary’s Advisory Committee for Genetics, Health and Society. He is a member of the EGAPP working group. He is a member of the American College of Medical Genetics and Genomics (ACMG) Board of Directors, serving as Vice-President for Clinical Genetics and rejoins the board as president-elect in 2019. He is past chair of the ACMG Committee on the Economics of Genetic Services and founded the ACMG Quality Improvement Special Interest Group. He is a member of the Scientific Advisory Board of the Clinical Pharmacogenetic Implementation Consortium and a member of the CPIC informatics committee. He recently joined the Scientific Advisory Boards of the NIH Undiagnosed Diseases Project, and Online Mendelian Inheritance in Man. He has authored over 160 articles on a variety of topics including the economic evaluation and value of genetic services, implementation of genomic medicine, and the use of informatics to facilitate genomic medicine.

  • Jonathan S. Berg, MD, PhD, FACMG.

    Dr. Berg is a Professor in the Department of Genetics at the University of North Carolina at Chapel Hill. He also has a clinical appointment in the Department of Medicine, Division of Hematology-Oncology and the Lineberger Comprehensive Cancer Center. He graduated from Emory University with a B.S. in Biology and completed the M.D./Ph.D. program at the University of North Carolina at Chapel Hill in the Curriculum in Neuroscience. He subsequently underwent residency training in Clinical Genetics at Baylor College of Medicine. Dr. Berg is now a physician and researcher interested in the development and application of genetic tests in patients and their families. The recent revolution in genetic sequencing technology has led to an unprecedented opportunity to investigate the underlying etiology in families with genetic conditions, and yet raises potential pitfalls that must be addressed in order to translate these new technologies into the practice of clinical genomics. Dr. Berg is particularly interested in the range of “incidental” or “secondary” findings that are discovered during the course of genome-scale sequencing, including the pre-test counseling and informed consent process, computational analysis required to determine the likely clinical relevance of variants, best practices for return of these findings to patients, and the impact of genomic findings on patients and their families. He is co-PI of NIH grants investigating the use of genome-scale sequencing as a diagnostic test in patients with suspected genetic disorders and as a potential screening tool in healthy newborns, and to develop a publicly available database of clinically relevant genes and variants through the “ClinGen” project. He is also an Investigator in the UNC Center for Genomics and Society, which was recently renewed as an NHGRI Center for Excellence in ELSI Research to evaluate the prospect of using genomics to improve the health of adults in the general public.

  • Mark Caulfield, FMedSci.

    Mark Caulfield graduated in Medicine in 1984 from the London Hospital Medical College and trained in Clinical Pharmacology at St Bartholomew’s Hospital where he developed a research programme in molecular genetics of hypertension and translational clinical research. In 2007, 2009 and 2011 his research has been independently rated amongst the top ten scientific discoveries in his field. In 2009 he won the Lily Prize of the British Pharmacology Society, in 2015 he won the Genome Valley Award at BioAsia and in 2016 the Bjorn Folkow Award of the European Society of Hypertension. Since 2008 he directs the NIHR Biomedical Research Centre at Barts. He was appointed Director of William Harvey Research Institute in 2002 and was elected to the Academy of Medical Sciences in 2008 and was President of the British Hypertension Society (2009-2011). He is an NHS consultant in the Barts Blood Pressure Clinic within the Barts/William Harvey European Society of Hypertension Centre of Excellence. He raised £25m toward the William Harvey Heart Centre which created a translational clinical research centre and was the academic leader that created the Barts Heart Centre bringing 3 hospitals together in 2015 to create the UK’s largest heart centre (includes UCLH Heart Hospital, the London Chest Hospital and Barts). He served on the 2011 NICE Guideline Group for hypertension and leads the Joint UK Societies’ Working Group and Consensus on Renal Denervation. Since 2014 he has been one of the top 200 most highly cited researchers in the world in genomics according to Thomson Reuters. In 2013 he became an NIHR Senior Investigator. In 2013 he was appointed Chief Scientist for Genomics England, charged with delivery of the 100,000 Genomes Project on whole genome sequencing in rare disease, cancer and infection. As chief scientist Mark leads on all scientific activities for Genomics England. He engages with NHS scientific teams and the general public to promote, explain and enthuse about the 100,000 Genomes Project. He also oversees a coalition of 2500 researchers which comprise the Genomics England Clinical Interpretation Partnership.

March 21, 2020
Sat 10:30 AM CDT

Duration 2H 0M

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