|The Future of Genomic Health in Precision Medicine: Interpretation of Whole Genome Sequencing (WGS)
Apostolos “Paul” Psychogios, M.D., FACMGG
Director Clinical Genetics and Genomics Research, Comite Center for Precision Medicine & Health
Whole Genome Sequencing (WGS) is a comprehensive method analyzing the entire genome being established as the most effective test for rare disease diagnosis. At the same time, it is a transformative diagnostic tool supporting the paradigm shift from disease-driven to prevention-oriented precision medicine. The American College of Medical Genetics and Genomics (ACMG) recommends WGS testing as an effective strategy in comparison with traditional single or multi-gene testing in patients with 1) a strong family history of a likely unknown genetic disorder or otherwise unspecified phenotype, 2) known but heterogeneous disorder, and 3) in affected individuals with previously nonconclusive genetic results. We have been offering WGS testing first in the practice since 2018 with an identification of a pathogenic (P) and likely pathogenic (LP) gene variant in approximately 71%. Our approach was specifically designed to offer 1) WGS at the first interaction with the client in conjunction with a comprehensive family history intake/pedigree analysis, medical record review, and examination, 2) continuous genome data reanalysis every 6 months especially for the initially non-diagnostic cases, and 3) continuous analysis of their phenome (phenomics). We believe that every individual, especially the most vulnerable ones, should have access to WGS-driven services first to precisely optimize their health and life outcomes.
|Update on Epigenetics: Understand the Power of Epigenetics from Biological Clocks, Immune Status, Telomere Lengths to Early Cancer Detection
Edwin N. Lee, M.D.
Assistant Professor of Internal Medicine, University of Central Florida College of Medicine
The emerging science of epigenetics is exploding and exciting. Epigenetics is the science of how our environment and other factors can turn on or turn off our genes. “Epi” means on or above in Greek and one part of epigenetics is looking at the methylation on our DNA. There are over 26 million spots where methylation can occur on our DNA in each cell. Since 2013 we have epigenetic biological clocks that gives our biological age, which is far superior than chronological age for measuring the aging process; which is still the biggest risk factor for all chronic disease and death. There are several biological clocks that will be reviewed. Not all the commercially available biological clocks are the same. By using computer algorithms and artificial intelligence on the DNA methylation pattern we now have clinical application to do liquid biopsy to detect cancer including stage 0. Cancer screening, estimation of telomeres, immune status, and other clinical application of epigenetics will be reviewed.
|Turning Back Your Clock: Optimizing Epigenetics to Extend Your Healthspan for Life!
Florence Comite, M.D.
Founder, Comite Center for Precision Medicine, New York, NY
Member, AMMG Planning Committee
Diseases of aging arise as a result of systemic degradation to basic physiological function with chronological age, generally beginning in the 30’s. Importantly, these metabolic, hormonal, microbiome, genomic, and epigenetic alterations that were once undetectable at the cellular level have become quantifiable with the emergence of novel diagnostic tools throughout the early 21st century. Precision Medicine physicians and clinicians are poised to seamlessly integrate these tools into clinical and digital health practices to support their ultimate objectives of intricate personalization and health optimization for each person. A multifaceted approach is essential to optimize health and stop chronic diseases on a targeted N-of-1 basis. Our longitudinal research, derived from >20 years of scientific data, suggests that it is possible to detect, predict, and stop chronic disease. This lecture will illustrate how our patients can achieve healthy longevity through this evidence-based approach.
|Improving Outcomes in Cardiometabolic Disease with Genomics
Sharon Hausman-Cohen, M.D., FAAFP, ABIHM
Owner & Co-Founder, Resilient Health
This talk will show how genomics can be used to understand some of the root causes of cardiometabolic disease including inflammation and hormonal signaling and mitochondrial factors. It will then elucidate how this root cause approach can guide the development of a precision medicine plan for prevention and treatment that incorporates diet, lifestyle, supplementation and even targeted medications.
|Matching DNA with Interventions: Optimizing Weight and Nutrition for Your Body Type
Elliot Dinetz, M.D. ABFM, FAAMFM
Timeless Health, Miami, FL
Member, AMMG Conference Planning Committee
As we continue to see the role of Genomics in the way we practice medicine, we will explore Single Nucleotide Polymorphisms’ (SNP’s) role in tailoring medical care focusing on how to reverse obesity and diet related health conditions based on the individual’s genetic predisposition and needs. In reviewing well-studied SNPs we will dive into how to utilize this tool as part of a systems biology approach for advanced prevention and reversal of disease processes, a far leap from the way conventional medicine is managing them. This allows physicians to customize ideal lifestyle as well, from optimal exercise to unveiling food aversions and inflammation. Alleviating the need for trial and error ultimately limits patient suffering and is the new frontier in healthy aging. Excellent for experienced Integrative health providers or new to genetics primary care physicians, this dive into the literature will allow the practitioner to start making clinical improvements to their practice come Monday morning.
|Epigenetics: Theory, Testing, and Using it to Guide Clinical Recommendations
Daniel Stickler, M.D.
Co-Founder/Chief Medical Officer, Apeiron
Epigenetics is quickly becoming an important tool in patient assessment and many physicians are lacking adequate training required to utilize and interpret the results to guide clinical decisions.Topic areas:
Understanding these new techniques will provide clinicians with a new and beneficial tool to guide clinical assessment and planning.
|A Root Cause Analysis of “Essential Tremor” Through the Lens of Functional Genomics
David C. Socol, M.D.
Family Practice Physician, Beverly Hills, CA
The conventional approach to treating essential tremor migrates from observation to the prescription of beta-blockers and perhaps onward to stereotactic surgery. In this root cause analysis using functional genomics as a preferred clinical decision-making tool, the etiology of essential tremor becomes a symptom of genomic polymorphisms that intersect with epigenetic influences. This genomic insight provides the clinician with a unique opportunity to disrupt the pathophysiology of essential tremor and improve long-term outcome using therapeutic interventions that are tailored to the unique genomic polymorphisms of an individual.
|Nutritional Deficiencies and Genetics: Optimizing Precision Health Outcomes with N-of-1
Ashley Madsen, PA-C
Comite Center for Precision Medicine, New York, NY
Nutrigenetics is a nascent and exciting field of study, focusing on the relationship between genetic variation and nutrient absorption, utilization, and daily requirements in the individual. With Precision Medicine, clinicians can utilize this N-of-1 data to further optimize each patient’s metabolism and nutrient balance through medications, supplements, and dietary recommendations. This presentation introduces the core principles of nutrigenetics before exploring notable gene-nutrient relationships in the literature. After laying the groundwork, we illustrate the many ways we have integrated nutrigenetics into our clinical practice and consider advanced applications for the future. Audience members will learn the importance of nutrigenetics as a diagnostic tool in Precision Medicine to improve health outcomes via nutrient status.
|Your Genes Are Not Your Destiny: Re-engineering your physiology with N-of-1 interventions
Lauren Klein, PA-C
Comite Center for Precision Medicine, New York, NY
Precision Medicine is grounded in the collection, integration, and interpretation of N-of-1 data to assess disease risk and improve health outcomes in every patient. Family history is an essential piece to this assessment, which illustrates what may present in a patient’s health trajectory with time and age. As biotechnology has advanced in the 21st century, genetic testing has become less expensive and more accessible for clinicians practicing age management medicine. Together with family history, clinical insights derived from genetic testing can revolutionize the quality and efficacy of preventive care. This presentation covers the core principles of Precision Medicine, followed by an extensive review on the utility of genetic testing in our clinical practice. Audience members will learn how to interpret genetic data to optimize cardiovascular health and slow the aging process.