Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder

Abstract

Objective: To increase the awareness among at risk relatives of the availability of genetic testing for a familial disorder while respecting their autonomy and privacy. Methods: This was a comparison of preintervention and postintervention cohorts of families carried out in a state wide clinical service providing genetic counselling and testing for people at risk of familial adult onset cancer. Unaffected relatives who were not clients of the service in 74 kindreds with familial mutations causing familial breast and ovarian cancer, hereditary non-polyposis colorectal cancer, or Cowden syndrome were included in the study. In the baseline cohort (41 kindreds), family members who were clients of the clinical service and had been shown to be carriers of mutations were asked to advise relatives that genetic testing was available. In the intervention cohort (33 kindreds), the clinical service obtained consent to advise at risk relatives by letter that genetic testing was available. The main outcome measures were: (a) proportion of unaffected first and second degree relatives of the proband in each family whose genetic status was clarified within 2 years of the mutation being identified in the family, and (b) concerns regarding privacy and autonomy voiced by relatives receiving these letters. Results: In the baseline cohort, the average proportion of relatives in each family whose genetic status was clarified was 23%. In the intervention cohort, the average proportion of relatives in each family whose genetic status was clarified was 40% (p = 0.001). None of the relatives in the intervention cohort complained of a breach of privacy or autonomy. Conclusion: Clinical services can take an effective and proactive approach to notifying relatives who are not their clients of the availability of genetic testing without compromising principles of privacy and autonomy.

How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence

“…This theme comprises two papers 30,31 presenting studies in which services/professionals directly contact the family members potentially at-risk. The two papers explore the acceptability and feasibility of direct contact by genetic services to high-risk relatives informing them about the availability of genetic counselling and testing.…”

Health first, genetics second: exploring families' experiences of communicating genetic information

“…The exception is the method of direct contact from the genetics service to at-risk family members by posting generic letters warning of increased risk of cancer. 36 Although this method of direct contact results in a significantly increased uptake of clarification of genetic status by at-risk family members, 36 other research suggests that probands and consultands prefer to disseminate genetic information to family members rather than relying on the genetics service. 21 A follow-up consultation where familial communication issues are addressed seems a logical and practical method given the results from these interviews.…”

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

“…Similarly, studies of cascade testing for hereditary cancers describe these two approaches of making contact with relatives. 31,32 A comparison of standard clinical practice and an intervention that included greater emphasis on, and assistance with, family communication showed that with additional follow-up genetic counselling, greater proportions of relatives contacted genetic services. 33 Although the studies described above can suggest how to better support families of children diagnosed with CF through NBS, an important difference is that the genetic information in the present study relates to reproductive risk rather than personal health.…”