Have You Seen This?: Sharing Genetic Testing Results with Family

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Holly Magliochetti

Genetics Institute of America

Genetics Institute of America (GIA) is a national laboratory dedicated to heightening the awareness of early intervention and genetic screening to promote the longevity and quality of life outcomes.  


Have You Seen This? 

Sharing Genetic Results with Relatives

December 14, 2022

DELRAY BEACH, FL  – Sharing genetic results with relatives has been the focus of multiple studies and results have shown a large percentage of patients share their genetic findings with someone, usually a first- or second-degree relative. These studies, however, do not discuss exactly what patients are sharing and why they may choose to share with one relative over another. The sharing of genetic testing results with close relatives could highlight the need for cascade testing and aid in a family member’s personal cancer treatment or guide prevention strategies. Prominent organizations, like the American Society of Clinical Oncology (ASCO), have testing guidelines recommending cascade testing in first- and second-degree relatives when there is a known familial pathogenic variant; however, it is unclear what urgency and/or what information relatives are receiving from their relative who has already been tested.

A recently published study “aimed to determine the rate patients share test results with relatives (first-, second-, and third-degree blood relatives and spouses or partners)…[and] investigate the content of the information that was shared.”1 The researchers found that all participants shared their results with at least one relative. This relative varied depending on the familial situation of the patient, including whether the patient was married, had family living with them, the personal characteristics of the family member or if the patient had siblings and living parents.1 The content shared was categorized by the researchers into 3 main groups: characteristics of the patient’s cancer, knowledge and caution to inheritance, and utilization of medical care.1

The researchers hope that this study can be applied widely to clinical practice, as more patients are receiving genetic testing and sharing their results with relatives. A more robust system for supporting relatives through the genetic testing process is vital as well as  “establish[ing] a prevention system for relatives, as…patients [are] motivated to share their test results to contribute to the health outcomes among their relatives.”1

  1. Fukuzaki N, Kiyozumi Y, Higashigawa S, et al. Sharing genetic test results of germline pathogenic variants of hereditary cancer with relatives: A single-center cross-sectional study. Jpn J Clin Oncol. 2021;51(10):1547-1553. doi:10.1093/jjco/hyab110
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