Original article—alimentary tract
Sharing Genetic Test Results in Lynch Syndrome: Communication With Close and Distant Relatives

https://doi.org/10.1016/j.cgh.2007.12.014Get rights and content

Background & Aims: Clinical genetic testing can help direct cancer screening for members of Lynch syndrome families; however, there is limited information about family communication of genetic test results. Methods: A total of 174 probands who had genetic testing for Lynch syndrome were enrolled through 4 US cancer genetics clinics. Subjects were asked whether they had disclosed their genetic test results to first-, second-, and third-degree relatives. Univariate and multivariate analyses were used to identify clinical and demographic factors associated with informing immediate and extended family of genetic test results. Results: One hundred seventy-one of 174 probands (98%; 95% confidence interval, 95%–100%) reported that they had disclosed their genetic test result to a first-degree relative. Communication of test results to other relatives occurred significantly less often, with only 109 of 162 (67%; 95% confidence interval, 59%–74%) subjects with second- or third-degree relatives sharing their results. Individuals with a pathogenic mutation were significantly more likely to inform distant relatives than were subjects with a negative or indeterminate test result (odds ratio, 2.49; 95% confidence interval, 1.14–5.40). Probands’ age, sex, and cancer status did not influence communication of genetic test results. Lack of closeness and concerns that relatives would worry or not understand the implications of test results were the primary reasons for not sharing genetic test results. Conclusions: Most individuals who undergo genetic testing for Lynch syndrome share their test results with first-degree family members; however, these results reach more distant relatives significantly less often. Interventions to improve communication of genetic test results to members of the extended family are necessary to provide optimal cancer prevention care to at-risk families.

Section snippets

Methods

We conducted a cross-sectional questionnaire study among individuals with a personal or family history fulfilling clinical criteria for Lynch syndrome. Subjects were recruited through 4 cancer genetics clinics in the United States: Dana-Farber Cancer Institute (Boston, MA), Massachusetts General Hospital (Boston, MA), University of Michigan (Ann Arbor, MI), and University of California San Francisco (San Francisco, CA). Eligible subjects included individuals whose personal or family history

Subject Characteristics

Most of the 174 subjects who reported having undergone genetic testing for Lynch syndrome were women (70%), white (91%), college graduates (69%), and married (76%). The mean age of the participants was 46.7 years (range, 18–79 y). More than half of study participants (61%) had a cancer diagnosis, and 104 (60%) individuals had a confirmed positive genetic mutation associated with Lynch syndrome (Table 1).

Disclosure of Genetic Test Results to First-Degree Family Members

Overall, 171 of 174 (98%; 95% confidence interval, 95–100) subjects reported that they had

Discussion

In a multicenter study of 174 individuals who had undergone genetic testing for Lynch syndrome, we found that nearly all (98%) had disclosed their test results to FDRs; and two thirds had shared these results with more distant family members such as cousins, aunts, or uncles. Seventy-three of 97 (75%) subjects whose testing identified a gene mutation communicated this result to one or more SDRs/TDRs. Having a true positive genetic test result was the only clinical or demographic factor

References (13)

  • A.Y. Kinney et al.

    Interest in genetic testing among first-degree relatives of colorectal cancer patients

    Am J Prev Med

    (2000)
  • H.T. Lynch et al.

    Clinical impact of molecular genetic diagnosis, genetic counseling, and management of hereditary cancerPart II: hereditary nonpolyposis colorectal carcinoma as a model

    Cancer

    (1999)
  • F.M. Giardiello et al.

    AGA technical review on hereditary colorectal cancer and genetic testing

    Gastroenterology

    (2001)
  • A. Wagner et al.

    Long term follow-up of HNPCC gene mutation carriers: compliance with screening and satisfaction with counseling and screening procedures

    Fam Cancer

    (2005)
  • M. Epplein et al.

    Genetic services for familial cancer patients: a follow-up survey of National Cancer Institute Cancer Centers

    J Clin Oncol

    (2005)
  • S.D. Ramsey et al.

    Cost-effectiveness of microsatellite instability screening as a method for detecting hereditary nonpolyposis colorectal cancer

    Ann Intern Med

    (2001)
There are more references available in the full text version of this article.

Cited by (98)

  • A systematic review of theory-informed strategies used in interventions fostering family genetic risk communication

    2022, Patient Education and Counseling
    Citation Excerpt :

    Currently, confidentiality and privacy protections (e.g. Health Insurance Portability and Accountability Act) compel genetic counselors and other clinicians to advise probands to communicate genetic risk information to their blood relatives (i.e. duty to tell) [10,11]. Evidence to date suggests that reliance on this approach has resulted in inconsistent and incomplete notification, low awareness of risk among at-risk relatives, and relatives showing low uptake of genetic services [12–16]. In clinical practice studies, cancer family pedigrees generally indicate averages of 15–19.71 blood relatives who could benefit from genetic information [17,18].

View all citing articles on Scopus

Supported by an American College of Gastroenterology Junior Faculty Award (2004), a GlaxoSmithKline Institute for Digestive Health Clinical Research Award (2004), and K07 NCI CA 120448-01 (all to E.M.S.), and K24 NCI CA 113433 (S.S.). Drs Syngal, Chung, and Terdiman have consultant/advisory relationships with Myriad Genetic Laboratories, Salt Lake City, Utah.

View full text