Health and Wellness Genomic Screening

Due to dramatic reduction in the cost of next generation sequencing (NGS) and breakthroughs in NGS data analysis, the idea of harnessing the power of NGS to inform health and wellness decisions is rapidly moving towards becoming mainstream. Risk prediction, genetic etiology of diseases, customized nutrition, exercise recommendations and more can be deduced from personal genomic testing. To take full advantage of personal genomic testing we need to develop a system that would include well-validated and reliable assays, comprehensive reports, specific promotional channels, reimbursement, ethical considerations, and more. Cambridge Healthtech Institute’s Inaugural Health and Wellness Genomic Screening symposium is designed to discuss these issues and to search for their solutions by bringing together all the stakeholders of this exciting healthcare overhaul including sequencing experts and companies, nutritionists, wellness experts, physicians, patients, regulators and other interested parties.


8:00 am Registration & Morning Coffee


8:25 Chairperson’s Opening Remarks

Jamie Platt, Ph.D., Managing Director, BRIDGenomics, LLC.

8:30 Genomic Sequencing in the Clinic: Today & Tomorrow

David_BickDavid Bick, M.D., CMO & Faculty Investigator, HudsonAlpha Institute for Biotechnology; Founder & CMO, Envision Genomics

Genomics is changing the practice of medicine. At present, genomic sequencing (whole exome sequencing and whole genome sequencing) is used in the diagnosis of rare Mendelian disorders. This technology is also used in oncology to help guide the choice of chemotherapeutics. This presentation will discuss how genomics is currently integrated into the practice of medicine and will explore how we will soon use it to promote health and wellness.

9:00 Personalized Genomics: Beyond Precision Medicine and Ancestry

Jamie_PlattJamie Platt, Ph.D., MB(ASCP), Managing Director, BRIDGenomics, LLC.

Personalized genomics is an expanding area of interest that is rapidly reaching beyond medicine and ancestry. While Next-Generation Sequencing (NGS) technologies have catapulted precision medicine applications through both research and clinical diagnostic efforts, many other applications remain. Ancestry applications have been consistently gaining traction and social attention, but other applications are not as mature. The opportunities for personalized genomics outside of medicine and ancestry will be discussed with attention to the key issues that must be addressed as we bridge genomics to segments that interface more directly with the public.

9:30 Genomic Health Screening: The Hype, Hope, and Reality

Wendy_ChungWendy Chung, M.D., Ph.D., Kennedy Family Associate Professor of Pediatrics and Medicine, Director of Clinical Genetics, Columbia University

Since the human genome sequence became available, it has been the goal of genomic medicine to use an individual’s genome information to facilitate early detection and prevention of disease. With the dramatic drop in the cost of sequencing, it is now possible to realistically consider genomic health screening on a population-wide basis. This talk will focus on what is currently possible and what the barriers are to implementation of genomic health screening.

10:00 Sponsored Presentation (Opportunity Available)

10:30 Coffee Break


11:00 Emerging Aspects of Genetic Studies in Humans and Implications for Informing Dietary Recommendations

Hooman_AllayeeHooman Allayee, Ph.D., Associate Professor, Preventive Medicine, University of Southern California, Keck School of Medicine

An understanding of the genetic basis for common diseases, such as heart disease and diabetes, has been revolutionized by large-scale studies in human populations and rapid advances in genomics technologies. Despite this success, the susceptibility genes identified to date still only explain a small fraction of the overall heritability for any particular disease, which implies either 1) the existence of additional genes with smaller effect sizes, 2) higher order interactions between genes and environmental factors, such as diet, and/or 3) rare susceptibility alleles. An overview of the current state of common disease genetics and how this information can be leveraged towards improving dietary recommendations will be presented.

11:30 The Impact of a $1000 Genome on Preventive and Precision Medicine

Joseph_ThakuriaJoseph V. Thakuria, Chief Medical Officer, Veritas Genetics; Instructor Harvard Medical School; Assistant in Medical Genetics at Massachusetts General Hospital

This presentation will examine the impact of a high quality $1000 genome with clinical interpretation on Preventive and Precision Medicine. What changes in standard of care and preventive medicine will directly result from whole genome sequencing of ”healthy” subjects? As currently practiced, medical care is often criticized for being reactionary. Access to $1000 genomes is poised to catalyze a new era of preventive and precision medicine..

12:00 pm PANEL DISCUSSION: Harnessing the Power of Genomics

Keith_BatchelderKeith Batchelder, M.D., CEO & Founder, Genomic Healthcare Strategies

Panelists: Speakers of the Day

Breaking Down the Barriers: Genomic information offers potential individualized insights into health, wellness and disease. Yet many feel that Genomics is slow to be incorporated into everyday patient management (beyond oncology). The current US healthcare system might be described as more of “sick-care,” as opposed to healthcare, putting prevention and screening at low priority. Are the incentives for Genomics, like screening, and even understanding personal drug metabolism and/or adverse effects, aligned with current market forces in the US? What are necessary steps, infrastructure and reimbursement changes that need to make Genomics part of everyday healthcare. Who will be leaders in Genomic “health“ adoption, traditional healthcare, public health initiatives, integrated healthcare delivery networks, direct-to-consumer organizations?

  • Explore where Genomic information is valued – what areas are ripe for genomics
  • What infrastructure is needed to utilize and potentially improve genomic information – is big data just a buzzword
  • Will innovation come from inside or outside the healthcare establishment?

12:30 Q&A with Speakers

1:00 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

1:30 Session Break


2:00 Chairperson’s Remarks

Dana Farengo Clark, MS, MS, LCGC, Genetic Counselor, Oncology Program, University of Pennsylvania

2:05 Implementing Genomic Testing into a Wellness Program

Karen_HuyckKaren L. Huyck, M.D., Ph.D., Assistant Professor, Occupational and Environmental Medicine, Geisel School of Medicine, Dartmouth College

The Dartmouth-Hitchcock Weight and Wellness Center (WWC) Biorepository is being developed to archive comprehensive datasets including but not limited to: genomic, microbiomic, clinical, demographic, anthropomorphic, and psychosocial data, wellness and lifestyle data, and functional brain imaging information from patients with obesity. Much like the beginning of our nascent understanding of cancer, when rudimentary treatments were not targeted to specific types of tumor cells, obesity is often treated with a “one size fits all” approach. Effective treatment for obesity will benefit from organized, large-scale study, and precision research approaches.

2:35 It’s Not You, It’s Your Tumor: Navigating The Journey From Somatic Tumor Testing To The Genetics Clinic

Dana_Farengo_ClarkDana Farengo Clark, MS, MS, LCGC, Genetic Counselor, Oncology Program, University of Pennsylvania

Cancer genetics is being challenged by the uptick of NGS of tumor DNA. Somatic testing, while providing therapeutic information, may contain incidental germline findings, influencing cancer risk. The results of somatic testing may be directed to the genetic counselor to elucidate if the somatic finding necessitates clinical germline testing and by what criteria patients should be referred. The University of Pennsylvania’s novel algorithm for referring patients for germline testing, its implementation, and early outcomes will be discussed.

3:05 Refreshment Break


3:35 Using Genetic Information for Adapting Nutrition Plans to Individual Needs

Martin_KohlmeierMartin Kohlmeier, M.D., Ph.D., Research Professor, Department of Nutrition, UNC Schools of Medicine and Public Health, Chapel Hill, and Nutrigenetics Laboratory, UNC Nutrition Research Institute

Numerous common genetic variants influence what we should eat and what we actually end up eating. Reliable genetic testing is affordable and the evidence base for gene-food interactions is steadily expanding. The challenge now is to combine both elements into effective precision nutrition practice. This presentation will highlight how computing can help professionals and consumers to make sense of the many different gene-food interactions and inform about good nutrition choices.

4:05 Nutritional Genomics: Opportunities for Captivating and Engaging Wider Audiences
Ron_MartinRon L. Martin, Founder and President, Nutrigenetics Unlimited, Inc.
Nutrition applies to everyone, and can be used to help introduce genetics/genomics to wider audiences, including members of the public. Engagement of the public will be helpful or even essential for moving genetics/genomics into the mainstream of healthcare consciousness. Examples of the emerging evidence-base will be described, along with online tools for increasing both awareness and utility of the increasingly actionable information which can captivate the imaginations of most anyone.

4:35 Close of Symposium