Introduction Advances in genomic technology have resulted in an abundance of genetic information which is accessible to research participants. It is generally accepted that researchers have an ethical duty to notify research participants of information that can affect a person’s health or prevent significant harm. The International Sarcoma Kindred Study (ISKS), a population based study, recruited individuals diagnosed with sarcoma, their spouses and family members.
Methods Germline TP53 mutation testing has been undertaken primarily to ascertain the prevalence of TP53 mutations in this cohort. ISKS participants within families in which a pathogenic TP53 mutation is identified are notified by mail that genetic information is available for their family. Individuals who wish to find out more about the information indicated in the notification letter can call a nominated genetic counsellor or make an appointment in a family cancer clinic (FCC). Few studies have explored research participants’ understanding of information contained in the notification letters they receive from research studies and the implications the genetic information will have for their future health. Similarly, there is little data on the factors that influence decision-making about the follow up of the genetic information contained in the letter and the psychosocial impact of having a germline TP53 mutation confirmed as a result of participation in a research study. This qualitative study uses individual, semi-structured telephone-based interviews to investigate the factors that influence ISKS participants following up information contained in the notification letter. At least 11 participants will be enrolled in the study and recruitment will close once thematic saturation is reached.
Results Preliminary results will be presented from the first 9 interviews, including the emotional and psychosocial impact of receiving the notification letter, their understanding of the implications of this information for themselves and family members and the intention of ISKS participants in making contact with an FCC.