Pilot Genomic Screening Program

 
Through the Center for Genomic Health, BioMe Biobank participants, both past and future, have the opportunity to obtain genomic results that can impact their health.

GOAL: genomic screening of BioMe Biobank participants and return of medically actionable results for use in clinical care

 

The Center for Genomic Health is focused on returning genetic results that are of high medical importance, which means there are medical interventions available that can reduce the negative health impact of the disease or even prevent a disease altogether. Hereditary breast and ovarian cancer is one example of a common genetic condition with disease-altering interventions available. As such, a participant who learns that she has a genetic susceptibility to breast and ovarian cancer can increase screening to help identify a cancer earlier or utilize preventive medical and surgical interventions to reduce cancer risk. Other examples include cardiac conditions for which there are treatments available.

We expect that only a small percentage of BioMe participants will have genetic results that are of high medical importance. When a genetic result that is of high medical importance is identified in a BioMe participant who has opted to receive these results, the genetic result will be returned to the participant by a genetic counselor.

“My role is to help participants understand their genetic results and provide the information they need to make important decisions about their health,” explains Sabrina Suckiel, Senior Genetic Counselor for the Center for Genomic Health.
 
 

The BioMe Biobank is allowing researchers at the Center for Genomic Health to better understand the frequency of disease-causing genetic changes within the Mount Sinai Health System. “We are also taking an important step in actualizing the benefit of Genomic Medicine through providing personal genetic disease risk information,” explains Dr. Noura Abul-Husn, Clinical Director of the Center for Genomic Health and BioMe Co-Investigator. Research studies have found that participants may be interested in learning their personal genetic disease risk information because they feel empowered and motivated to prevent future disease.

This initial genetic counseling appointment is provided free of charge to BioMe participants. Participants and/or their insurance company will be responsible for any clinical appointments and procedures following the genetic counseling.

What is the BioMe Biobank?

 
Funded by The Charles Bronfman Institute for Personalized Medicine, BioMe is an electronic medical record-linked biobank that enables researchers to rapidly and efficiently conduct genetic, epidemiologic, molecular, and genomic studies on large collections of research specimens linked with medical information.

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“I believe that return-of-results is a wonderful thing. If they find something wrong, and it’s treatable, why wouldn’t I want to know about it? I think that this would really help the future. It’s not only helping me, but helping future generations.”

Bio<em>Me</em> Participant

BioMe Facts

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2007
Year Recruitment Started

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White participants

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Non-white participants

Currently Enrolled

Currently in stock

Plasma Samples

DNA Samples

Currently in stock

Plasma Samples

DNA Samples

Genotypes

Exomes Sequenced

Genomes Sequenced

Genotypes

Exomes Sequenced

Genomes Sequenced