An archive of information about our 2015 Stakeholders Symposium.
July 16, 2015
Carnegie Library at Mount Vernon Square, Washington DC
801 K Street, NW, Washington, DC 20001
The Stakeholder Perspectives in Noninvasive Prenatal Genetic Screening Symposium is a one-day event designed to bring together diverse voices regarding non-invasive prenatal genetic screening (NIPS). Showcasing cutting-edge empirical research on the clinical translation of NIPS and a variety of clinician, payer, and patient perspectives, this symposium is designed to facilitate forward-looking conversations on the clinical, social, ethical, and legal impacts of NIPS technologies.
Taking place on July 16, 2015, the symposium is held in conjunction with the annual meeting of the International Society for Prenatal Diagnosis in Washington, DC.
The symposium is co-chaired by Subhashini Chandrasekharan, PhD (Duke University) and Vardit Ravitsky, PhD (University of Montreal). It is a project of the Prenatal Information Research Consortium, a non-profit collaboration of researchers.
We would like to thank the following:
Scientific organizing committee:
Subhashini Chandrasekharan, PhD, Duke University, symposium co-chair
Vardit Ravitsky, PhD, University of Montreal, symposium co-chair
Megan Allyse, PhD, Mayo Clinic
Mollie Minear, PhD, Duke University
Marsha Michie, PhD, University of California, San Francisco
Subarna Pradhan, MD, MPH, Duke University
Advisors:
Louise Wilkins-Haug, MD, PhD, Division Director, Maternal Fetal Medicine and Reproductive Genetics, Brigham and Woman’s Hospital
Diana Bianchi, MD, Executive Director, Maternal Infant Research Institute, Tufts University School of Medicine
Brigitte Faas, PhD, Department of Human Genetics, Radboud University Medical Center
Ms. Alison Cockrell, Program Director, International Society for Prenatal Diagnosis
Sponsors:
The PeGASUS project, funded by Genome Canada
March of Dimes
Josiah Charles Trent Memorial Foundation at Duke University
Noninvasive Prenatal Genetic Screening: Where are we and where are we going?
July 16, 2105
AGENDA
8:20 am – 8:30 am: Introductions and Co-chairs remarks
8:30 am – 10:30 am: Session I: Issues in Clinical Implementation
· US physician perspectives (Stephanie Alessi, JD, Postdoctoral Fellow, Stanford Center for Biomedical Ethics)
· Low- and middle-income country physician perspectives (Lucas Otaño, MD, President, International Society for Prenatal Diagnosis)
· Cost effectiveness perspectives (Mark Nunes, MD, Medical Genetics, Kaiser Permanente)
· Reimbursement and payers perspectives (Patricia Deverka, MD, Principle Researcher, American Institutes for Research)
10:30 am – 10:50 am: Coffee Break
10:50 am – 12:30 pm: Session II: Patients’ Experiences
· Turning to the Source: Understanding the Informed Consent Needs of Pregnant Women (Ruth Farrell, MD, Obstetrics and Gynecology, Cleveland Clinic)
· Perspectives of Canadian Patients (Vardit Ravitsky, PhD, Professor of Bioethics, University of Montreal)
· International patient experiences: Examples from China and Hong Kong (Megan Allyse, PhD, Associate Consultant, Biomedical Ethics Program, Mayo Clinic)
· Genetic counselors’ experiences (Cori Feist, MS, CGS, Genetic Counselor, Oregon Health and Sciences University)
12:30 pm – 1:30 pm: Lunch
1:30 pm – 3:30 pm: Session III: Patient Advocate and Disability Rights Perspectives
Panel discussion featuring patient and disease advocates for some of the genetic conditions screened by NIPS and disability rights advocates
· Moderator: Marsha Michie, PhD, Assistant Professor, Institute for Health and Aging, University of California, San Francisco
· Panelists:
Linzee Carroll, 11q Research & Resource Group (Jacobsen syndrome)
Virginia Isaacs Cover, Association for X and Y Chromosome Variations (AXYS)
Janalee Heinemann, Prader-Willi Syndrome Association (USA)
Victoria J. Miller, Trisomy 18 Foundation
Stephanie Meredith, University of Kentucky Human Development Institute
Christopher Kaposy, Memorial University of Newfoundland
3:30 pm – 3:50 pm: Coffee Break
3:50 pm – 5:30 pm: Session IV: The Future of NIPS – Challenges and Issues
· Informed decision-making and physician education (Subhashini Chandrasekharan, PhD, Assistant Professor of Global Health, Duke University)
· Ethical, Legal, and Social Implications (Vardit Ravitsky, PhD, Professor of Bioethics, University of Montreal; and Anne-Marie Laberge, MD, PhD, FRCPC, Medical Geneticist, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine)
· Policy issues (Alberto Gutierrez, Director, Office of In Vitro Diagnostics and Radiological Health, US Food and Drug Administration)
Megan Allyse, PhD, is an Associate Consultant in the Biomedical Ethics Program at Mayo Clinic, Rochester. She studies the intersection of emerging technologies and their legal, ethical, and social implications, particularly when it comes to scientific and medical policy. She has a particular focus on women’s health and reproductive technologies and has conducted extensive empirical work on the emergence and implementation of non-invasive prenatal genetic screening in both the US and international contexts.
Stephanie Alessi, JD, is a Postdoctoral Fellow at the Stanford Center for Biomedical Ethics and a clinical ethics consultant at Stanford Health Care. Her research centers on the ethical issues that arise at the crossroads of research and clinical practice, with particular attention to the clinical integration of emerging genetic technologies. Her current work focuses on reducing healthcare access inequities and improving clinical communication.
Linzee Carroll has served as the president of the 11q Research and Resource Group for 11 years. The 11q Research and Resource group is a non-profit organization designed to support families of children with syndromes related to the 11th chromosome as well as encourage and promote 11q research. Linzee is a mother to four beautiful children, two of which have Jacobsen Syndrome or 11q deletion syndrome.
Subhashini (Shubha) Chandrasekharan, PhD, is an Assistant Research Professor in the Duke Global Health Institute, Duke University. Her research interests encompass ethical, legal, and social issues (ELSI) surrounding genetic/genomic technologies and the socio-cultural and economic factors affecting their global dissemination and adoption. Specifically she studies innovation, commercialization, and access to biomedical technologies, including genetic/genomic diagnostics and vaccines. Current research projects examine commercialization and clinical implementation of noninvasive prenatal genetic screening technologies and barriers to clinical adoption and patient access in the US (funded by the NIH) and in low and middle-income countries.
Virginia Isaacs Cover, MSW, is a social worker in the field of developmental disabilities as well as being the parent of an adult son who was diagnosed prenatally with 47,XXY (Klinefelter syndrome). She is an advocate for families and individuals affected by X and Y chromosome aneuploidy. Ms. Cover authored the guidebook, “Living with Klinefelter Syndrome, Trisomy X and 47,XXY.” She is a member of the Board of Directors of AXYS.
Patricia A. Deverka, MD, MS, MBE, is a Principal Researcher in the Health Policy and Research Group at the American Institutes for Research where her role is to promote the meaningful inclusion of patients and other stakeholders throughout the clinical research and care delivery processes, by using robust engagement methods and evaluating outcomes. Most recently, her work has focused on methods for engaging stakeholders in comparative effectiveness research, with projects funded by the NIH, AHRQ, and PCORI. Dr. Deverka is also a recognized expert in the area of coverage and reimbursement for new genomic-based technologies and has worked collaboratively with stakeholders to recommend standards for a more predictable reimbursement pathway. She is currently collaborating on several NHGRI-funded studies to examine coverage issues related to sequencing, including the development of a registry of public and private payer coverage policies for next-generation sequencing based tests. Dr. Deverka has a medical degree from the University of Pittsburgh and is board certified in general preventive medicine and public health. She also obtained a Master’s degree in bioethics from the University of Pennsylvania and completed a policy fellowship at Duke University’s Institute for Genome Sciences and Policy.
Ruth Farrell, MD, MA, is a staff member in the Departments of Obstetrics & Gynecology and Bioethics at the Cleveland Clinic. She is Assistant Professor of Surgery at the Cleveland Clinic Lerner College of Medicine and faculty affiliate of the Center for Genetic Research Ethics and Law (CGREAL) at Case Western Reserve University. Dr. Farrell is a practicing obstetrician-gynecologist and clinical researcher who examines ethical and clinical issues associated with the integration of new reproductive and genetic technologies into women’s health. She has severed on the Committee on Ethics of the American Congress of Obstetricians and Gynecologists and the Ethics Committee for the American Society of Reproductive Medicine in addition to ethics committees at the Cleveland Clinic and University MacDonald Women’s Hospital.
Cori Feist, MS, CGC, is a board-certified genetic counselor at Oregon Health & Science University. Most of her 15 years at OHSU has been spent providing pre-conceptual and prenatal genetic counseling services. However, her true passion is developing patient and provider education to ensure informed consent in prenatal testing for genetic conditions.
Alberto Gutierrez, PhD, is the Director of FDA’s Office of In Vitro Diagnostics and Radiological Health. Dr. Gutierrez received a bachelor’s degree from Haverford College, and master and doctorate degrees in Chemistry from Princeton University. Dr. Gutierrez’s research experience is in the area of structural organic and organometallic chemistry. Dr. Gutierrez joined the FDA in 1992 as a researcher and reviewer in FDA’s Center for Biologics Evaluation and Research working on vaccine adjuvants and method development for determination of purity and structure of vaccine components. In 2000, he joined the Office of In Vitro Diagnostic Device Evaluation and Safety as a scientific reviewer, becoming a Team leader for Toxicology in 2003, Director of the Division of Chemistry and Toxicology Devices in 2005 and Deputy Director of the Office of In Vitro Diagnostic Devices in 2007 and Director in 2009.
Janalee Heinemann is the Coordinator of Research & International Affairs at the Prader-Willi Syndrome (PWS) Association and a parent of an adult son with PWS. She’s been a volunteer for PWSA for 16 years prior to becoming Executive Director and Director of Research & Medical Affairs at PWSA. She co-founded the MO State Chapter of PWSA and has written chapters for three editions of Management of PWS along with numerous articles, chapters, and two booklets on PWS.
Chris Kaposy is the father of 3 children, including Aaron, a 6 year-old boy who has Down syndrome. On the professional side of life, he is an Assistant Professor of Health Care Ethics at Memorial University in St. John’s, Newfoundland, Canada, and a practising clinical ethicist. His research interests include ethical issues in pregnancy – particularly cognitive disability and the ethics of prenatal testing.
Anne-Marie Laberge, MD, MPH, PhD, is a medical geneticist at CHU Sainte-Justine and clinical associate professor in the Department of Pediatrics, at Université de Montréal. She trained at the Institute for Public Health Genetics at the University of Washington, where she completed an MPH and an interdisciplinary PhD in Public Health Genetics. She is funded by the Canadian Institutes of Health Research. Her current work centers on the evaluation of the use of genetic information in populations and in clinical care and how it influences patient management and outcomes. Current projects include evaluations of carrier screening programs for recessive conditions in First Nations and French Canadian communities and of the use of genetic tests in the investigation of children with developmental delay. She is involved in the GE3LS (Genomics and its Ethical, Environmental, Economic, Legal and Social) components of two large-scale genomic projects funded by Genome Canada: a study of perceptions and attitudes of pregnant women, their partners and clinicians about NIPT (PEGASUS), and a study of the impact of genomic technologies in the management of individuals with pharmaco-restistant epilepsy (PRE-GENE).
Stephanie Meredith, M.A., is the Lettercase Program/Medical Outreach Director for the University of Kentucky’s Human Development Institute and home of the National Center for Prenatal and Postnatal Down Syndrome Resources. She is also the author of “Understanding a DS Diagnosis” and has overseen the distribution of nearly 40,000 copies of that booklet, and she recently authored the pamphlet, “Understanding Prenatal Screening and Testing for Chromosome Conditions.” She also co-authored “Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome” and “Your Loved One Is Expecting a Baby with Down Syndrome” and is the co-creator of downsyndromepregnancy.org, a blog for expectant parents. Further, Stephanie has delivered presentations at national and international conferences, including ACMG, NBDPN, DSAIA, ASHG, NSGC, and local Down syndrome conferences about bridging the information gap between the medical and disability communities to ensure patients receive accurate, up-to-date, medically-reviewed, and balanced information immediately following a diagnosis of Down syndrome.
Marsha Michie, PhD, is Assistant Professor in the Institute for Health & Aging at the University of California, San Francisco. She is an anthropologist whose research explores social, ethical, and moral implications of genetics and genomics. Her current research explores the progress of non-invasive prenatal genetic screening (NIPS) and the lessons it teaches us about bringing new genetic technologies into clinical use and people’s everyday lives in ways that are socially appropriate, equitable, and ethical.
Victoria J. Miller is the leader of the Trisomy 18 Foundation which was founded 12 years ago in 2003. As an activist and nonprofit leader, Victoria has long been involved in advocacy work focused on the issues surrounding the needs of families who receive adverse prenatal diagnoses and the need for accurate, balanced, and evidence-based information about the conditions diagnosed in their unborn children. She was instrumental in the crafting of the language for the Prenatally and Postnatally Diagnosed Conditions Awareness Act (SB 1810) that was passed out of the Senate Health, Education, Labor and Pensions Committee by unanimous consent. It was passed through the 110th Congress with strong bipartisan support and signed into law Oct. 8, 2008.
Mollie Minear, PhD, is a Postdoctoral Associate at the Duke University Center for Public Genomics, where she does research at the intersection of genetics, ethics, and policy. Her current research examines the impact of non-invasive prenatal genetic screening (NIPS) on the communities of patients impacted by the genetic conditions detected with this technology. She also studies the use and uptake of NIPS in the US and in the developing world. She obtained her PhD in genetics and genomics from Duke University.
Mark E Nunes, MD, is a board certified medical geneticist and pediatrician who works in the Kaiser Southern California Health System out of San Diego.
Lucas Otaño, MD, PhD, is an Obstetrician and Gynecologist and Medical Geneticist, specialized in Maternal-Fetal Medicine and Prenatal Diagnosis and Therapy. He is the Head of the Division of Obstetrics and Fetal Medicine Unit at the Hospital Italiano de Buenos Aires, Argentina. Professor at the Department of Obstetrics and Gynecology of Hospital Italiano School of Medicine, and the University of Buenos Aires. Currently he is the President of the International Society for Prenatal Diagnosis, ISPD, and Past President of the Argentine Society of Prenatal Diagnosis and Therapy.
Vardit Ravitsky, PhD, is Associate Professor at the Bioethics Program within the Department of Social and Preventive Medicine of the School of Public Health, University of Montreal. She is also Director of the Ethics and Health Branch of the CRE, an inter-university research center in ethics. She is a Board Member of the Institute of Genetics of the Canadian Institutes of Health Research (CIHR) and of the Quebec Reproduction Network (RQR). Previously, she was faculty at the Department of Medical Ethics of the University of Pennsylvania. Prof. Ravitsky’s research focuses on reproductive ethics and the ethics of genetic and genomics research.
Prenatal Information Research Consortium 