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Related Experiment Videos

Building a family network from genetic testing.

Kathleen A Leppig1, Heidi A Thiese2, David Carrel3

  • 1Genetic ServicesGroup Health CooperativeSeattleWA98112USA; Department of PathologyUniversity of WashingtonSeattleWA98195USA.

Molecular Genetics & Genomic Medicine
|April 1, 2017
PubMed
Summary

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Genetic counseling and testing after identifying actionable gene variants has multigenerational impacts. Disseminating genetic risk information to at-risk family members presents challenges in extending the family network.

Area of Science:

  • Genomics
  • Medical Genetics
  • Public Health

Background:

  • Genetic testing reveals actionable variants with multigenerational implications.
  • The "trickle-down effect" of genetic counseling and testing for at-risk family members remains poorly understood.

Purpose of the Study:

  • To explore the process and challenges of informing at-risk family members about actionable genetic variants.
  • To understand the family network's role in disseminating genetic risk information.

Main Methods:

  • Identified three probands with actionable gene variants from the eMERGEII (electronic MEdical Record and Genomics) study.
  • Two probands had pathogenic variants; one had a variant of uncertain significance.
  • Assessed family members' risk and healthcare system (Group Health Cooperative) for care coordination.
Keywords:
Electronic medical record and genomicsLDLRRYR1SCN5Afamily network

Related Experiment Videos

Main Results:

  • Probands informed some at-risk relatives, primarily children and grandchildren within the same healthcare system.
  • Siblings and more distant relatives were generally not informed of their genetic risk.
  • Challenges were noted in coordinating genetics care for extended family members.

Conclusions:

  • Establishing a family network is crucial for sharing genetic risk information.
  • Contacting and coordinating care for at-risk relatives, especially beyond immediate family, poses significant challenges.
  • Further strategies are needed to effectively extend genetic risk communication within families.