title: Building a family network from genetic testing.
abstract: BACKGROUND
  Genetic testing has multigenerational and familial repercussions. However, the "trickle-down effect" of providing genetic counseling and testing to family members at risk after an initial identification of a pathogenic variant in a medically actionable gene has been poorly understood.
  
  
  METHODS
  Three probands were identified during the pharmacogenetics research phase of eMERGEII (electronic MEdical Record and Genomics, phase II) to have variants in genes associated with autosomal dominant adult-onset disorders determined to be actionable by the American College of Medical Genetics (ACMG). Two of the three probands had variants that were classified as pathogenic and the third proband had a variant ultimately classified of uncertain significance, but of concern due to the proband's own phenotype. All probands had additional family members at risk for inheriting the variant. Two of the three probands had family members who received their medical care from the same health care system, Group Health Cooperative (GHC). It was recommended that the proband contact their family members at risk to be referred to genetic counseling for consideration of genetic testing.
  
  
  RESULTS
  The two probands with pathogenic variants contacted some of their family members at risk. Individuals contacted included children and adult grandchildren, particularly if they received their medical care at GHC. To the best of our knowledge, siblings and more distant relatives at risk were not informed by the proband of their genetic risk.
  
  
  CONCLUSIONS
  Establishing a family network is essential to disseminate knowledge of genetic risk. These three initial cases describe our experience of contacting eMERGE participants with identified variants, providing the probands with appropriate genetic counseling and care coordination, and recommendations for contacting family members at risk. Greater challenges were observed for coordinating genetics care for family members and extending the family network to include other relatives at risk.
authors.affiliation: Genetic ServicesGroup Health CooperativeSeattleWA98112USA; Department of PathologyUniversity of WashingtonSeattleWA98195USA.
authors.forename: Kathleen A
authors.initials: KA
authors.lastname: Leppig
authors.affiliation: Genetic Services Group Health Cooperative Seattle WA 98112 USA.
authors.forename: Heidi A
authors.initials: HA
authors.lastname: Thiese
authors.affiliation: Group Health Research Institute Group Health Cooperative Seattle WA 98101 USA.
authors.forename: David
authors.initials: D
authors.lastname: Carrel
authors.affiliation: Department of Biomedical Informatics and Medical Education University of Washington Seattle WA 98195 USA.
authors.forename: David R
authors.initials: DR
authors.lastname: Crosslin
authors.affiliation: Department of Pathology University of Washington Seattle WA 98195 USA.
authors.forename: Michael O
authors.initials: MO
authors.lastname: Dorschner
authors.affiliation: Department of Medicine (Medical Genetics) and Genomic Sciences University of Washington Seattle WA 98195 USA.
authors.forename: Adam S
authors.initials: AS
authors.lastname: Gordon
authors.affiliation: Group Health Research Institute Group Health Cooperative Seattle WA 98101 USA.
authors.forename: Andrea
authors.initials: A
authors.lastname: Hartzler
authors.affiliation: Group Health Research Institute Group Health Cooperative Seattle WA 98101 USA.
authors.forename: James
authors.initials: J
authors.lastname: Ralston
authors.affiliation: Group Health Research Institute Group Health Cooperative Seattle WA 98101 USA.
authors.forename: Aaron
authors.initials: A
authors.lastname: Scrol
authors.affiliation: Group Health Research Institute Group Health Cooperative Seattle WA 98101 USA.
authors.forename: Eric B
authors.initials: EB
authors.lastname: Larson
authors.affiliation: Department of Medicine (Medical Genetics) and Genomic Sciences University of Washington Seattle WA 98195 USA.
authors.forename: Gail P
authors.initials: GP
authors.lastname: Jarvik
keywords: Electronic medical record and genomics; LDLR; RYR1; SCN5A; family network