About GenoPheno

The GenoPheno mission is to make medical genetics knowledge accessible to all clinicians around the world in order to bring patients the best possible care.

GenoPheno accomplishes this by providing ABGC certified genetic counselor generated genetic test result interpretation and mutation-specific genetic disease diagnostic and clinical management information at the touch of a mouse.

GenoPheno genetic diagnostic, clinical management and mutation-specific genetic test result interpretation is specifically created for clinicians of all specialties, providing actionable, clinical genetics information to serve clinicians evidence based, peer reviewed, referenced medical expertise available in one place.

GenoPheno Genetic Counselors organize genetic information from the published medical literature, NCBI databases, genetic disease registries, diagnostic testing labs, mutation databases, and genetic disease centers of excellence, to save clinicians hours of research time.

 

Who We Are

GenoPheno is owned and operated by American Board of Genetic Counseling (ABGC) certified genetic counselors, with over a decade of experience delivering genetic test result information to clinicians and patients, interpreting genetic test results for molecular genetic diagnostic testing laboratories and working in collaboration with biopharmaceutical therapeutics companies on clinical trials, helping to bring life saving interventions to rare genetic disease patients.

The GenoPheno Medical Scientific Advisory Board includes world experts in medical genetics, diagnosing and managing genetic disease patients and diagnostic testing laboratories.

GenoPheno’s easily accessible genetic diagnostic testing, genetic counseling and disease management guidelines for physicians of all specialties are written and peer reviewed by ABGC Board Certified Genetic Counselors, Medical Geneticists and the rare disease experts.

 

GenoPheno Executive Leadership

Donna Lee Bernstein, MS, CGC is the President and co-founder of GenoPheno, LLC.

With more than ten years of clinical genetic counseling experience as the former Director of the Lysosomal Storage Diseases Program at North Shore University Hospital, Donna Lee Bernstein’s genetic testing and genetic disease management expertise focus is on Gaucher disease, Fabry disease, Pompe disease, Niemann-Pick C, Hunter syndrome, Morquio syndrome, lysosomal acid lipase deficiency, with experience with Sly syndrome, Sandhoff disease, mucolipidosis type IV, phenylketonuria and other genetic diseases. Over a decade of clinical disease management and overseeing clinical trial investigations has led to developing multi-disciplinary disease-specific knowledge.

Prior to initiating the Lysosomal Storage Diseases Program at North Shore LIJ in New York, Donna Lee Bernstein worked closely with Dr. Kenneth Offit, MD, MPH at Memorial Sloan-Kettering Cancer Center, on research and writing on hereditary cancer genetic syndromes.

Donna Bernstein creates and develops original research protocols, was involved in numerous orphan disease registries and is a member of the Board of Directors of LAL-D Aware (formerly LAL Solace), a web-based resource for patients and families impacted by lysosomal acid lipase deficiency. Donna is an active member of the National Society of Genetic Counselors and of the American Society of Human Genetics.

List of Publications

 

Deborah A. McDermott, MS, CGC GenoPheno Founding Member.

Deborah A. McDermott has over fifteen years of clinical and research genetic counseling experience, in both prenatal and adult specialties.  She served as a Research Associate in Medicine for nearly a decade, specializing in cardiovascular genetics at the Weill Cornell Medical College Division of Cardiology. Previously, Deborah was involved in clinical genetics research and genetic counseling at the Montefiore Medical Center (Bronx, NY), Divisions of Reproductive Genetics and Department of Surgery. Additionally, she served as a genetic counselor in the Division of Human Genetics at Memorial Sloan-Kettering Cancer Center in New York. Deborah has vast experience in human subjects research and IRB submissions.  She is a previous faculty member with the Human Genetics Graduate Program at Sarah Lawrence College, Bronxville, NY.  She has presented to numerous lay and professional audiences, and has published in several major peer reviewed journals.  She is an active member of the National Society of Genetic Counselors, and a diplomate of the American Board of Genetic Counseling.

List of Publications

 

Angela Arnold, MS, CGC GenoPheno Founding Member, is a Senior Genetic Counselor at Memorial Sloan Kettering Cancer Center, NY, Editorial Board Member Foundation for Women’s Cancers, co-Chair NSGC International Special Interest Group (SIG) and Telegenetics SIG, Member Phase I and Developmental Therapeutics Committees of the Gynecologic Oncology Group (GOG).

List of Publications

 

Robert McInerney, MBA, GenoPheno Founding Member, over 20 years of experience in Orphan Disease Patient Identification and Drug Development. Built Genzyme Therapeutics and Syngaeva Biopharma Corp from inception as Medical Affairs Development Genzyme Therapeutics, Medical Science Director at Synageva Biopharma corp, Consultant to Edimer Pharmaceuticals.

 

Tony Martignetti, MBA, GenoPheno Chief Financial Officer, LifeSci Financial Consulting, LLC Founder and Principal, former Finance Director at Sarepta Therapeutics, Vertex Pharmaceuticals and the Genzyme Corporation with over a decade of biopharmaceutical financial strategic planning, development and management expertise.

 

GenoPheno Scientific Medical Advisory Board

Robert J. Desnick, PhD, MD

GenoPheno Scientific Medical Advisor, ACMG Founding Fellow, ABMGG-American Board of Medical Genetics and Genomics certified in Clinical Genetics, Clinical Molecular Genetics, Clinical Biochemical Genetics, Dean for Genetic and Genomic Medicine, Professor and Chairman Emeritus, Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai, New York.

 

Lakshmi Mehta, MD

GenoPheno Scientific Medical Advisor, ACMG Board Certified Clinical Genetics, Professor of Pediatrics and Professor of Medical Genetics, Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai, New York.