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Related Concept Videos

Genetic Screens02:46

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Related Experiment Video

Updated: Nov 18, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Implementing genomic screening in diverse populations.

Noura S Abul-Husn1,2,3, Emily R Soper4,5, Giovanna T Braganza4

  • 1The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA. noura.abul-husn@mssm.edu.

Genome Medicine
|February 6, 2021
PubMed
Summary
This summary is machine-generated.

Genomic screening in a diverse biobank identified actionable conditions, particularly hereditary transthyretin amyloidosis, in African American and Hispanic/Latinx participants. The majority of participants expressed interest in receiving their genomic results.

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Area of Science:

  • Genomic Medicine
  • Population Genetics
  • Biobanking

Background:

  • Population-based genomic screening aims to reduce disease burden but requires research on standards and participant perspectives.
  • Non-European ancestry populations are underrepresented in genomic medicine research, necessitating tailored approaches.
  • A pilot genomic screening program was implemented in the multi-ethnic BioMe Biobank in New York City.

Purpose of the Study:

  • To implement and evaluate a pilot genomic screening program in a diverse biobank.
  • To assess participant interest in receiving genomic results.
  • To understand the impact of including specific genes on result return rates in underrepresented populations.

Main Methods:

  • Genomic screening was conducted for hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), familial hypercholesterolemia (FH), and hereditary transthyretin amyloidosis (hATTR).
  • The TTR gene, associated with hATTR and common in African ancestry populations, was included.
  • Participant preferences for receiving genomic results were assessed through surveys.

Main Results:

  • Of 74 participants receiving results, 34 had hATTR-related findings, with 97.1% being of African American/African (AA) or Hispanic/Latinx (HL) ancestry.
  • In contrast, 35.0% of participants with HBOC, LS, or FH results were from AA or HL groups.
  • Among 7461 newly enrolled participants, 93.4% desired to receive genomic results, with younger, female, and HL participants being more likely to opt-in.

Conclusions:

  • Including the TTR gene increased the proportion of results returned to AA and HL participants.
  • The majority of participants in this multi-ethnic biobank are interested in receiving medically actionable genomic results.
  • Findings support the implementation of genomic medicine in diverse populations and inform future research on participant engagement.