Timing and context: important considerations in the return of genetic results to research participants

Abstract

General consensus exists that clinically significant germline genetic research results should be fed back to research participants. A body of literature is emerging about Australian research participants' experiences of feedback of genetic research results and factors that influence a participant's actions after receiving such information. This exploratory qualitative study conducted interviews with 11 participants from the International Sarcoma Kindred Study, four probands and seven of their relatives. They had been informed by letter of the availability of clinically significant germline TP53 mutations identified through research. We examined the participants' views about the feedback of these genetic test results. Thematic (inductive) analysis was used to analyse the data. A number of factors influenced participants' responses following notification. This included participants' understanding of the notification letter and their perception of the relevance of the information for them and/or their family. Most notably, timing of the letter in the context of an individual's current life experiences was important. Timing and context are novel factors identified that may impact on research participants' understanding or their ability to access clinically significant research results. We outline strategies for disseminating results to research participants and their next of kin that may reduce their uncertainty around the receipt of research results.

“We need a one-stop-shop”: co-creating the model of care for a multidisciplinary memory clinic with community members, GPs, aged care workers, service providers, and policy-makers

“…Any potentially identifiable information was removed, and pseudonyms used throughout. Transcripts from both data sources underwent thematic (inductive) analysis [36]. Transcripts were coded in Quirkos v.1.4.1 software using the method of constant comparison, which takes an inductive approach.…”

Research participant interest in primary, secondary, and incidental genomic findings

“… 18 For individual patients, the timing of when the results are offered, within the context of their lives, may influence whether or not they are receptive to the return of results. 19 …”

“…Previous research has demonstrated that there was variable uptake of genetic test results and genetic counseling after patients were notified of the availability of test results. 19 Even in families who were well-informed regarding the genetic risk associated with the disease in their family, the actual testing uptake was less than 50%. For individuals with scant information about genetic risk, the uptake of counseling and testing was even lower (21%).…”

Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review

“…Motivators for GC attendance commonly endorsed or stated by attenders were: to obtain information for family members (11,21,30,42,48), to learn about their own risk of developing cancer (21,30,42), to have genetic testing (30,32,45) and/or to obtain a risk management plan (30,42,45). Other reasons given included: to help scientific research (30,32,37), to find out risks for offspring (25,30,42,48), or being urged/encouraged to attend by relatives (21,25,45). Convenience also appeared to facilitate attendance at clinics, with insurance coverage, shorter distances to travel, available transport and convenient appointment times stated as additional reasons for attendance (11,21).…”

“…Participants reported emotional concerns such as anticipated worry or anxiety regarding the results of genetic testing (17,25,33,37,42,46) and difficulty coping with the knowledge of an increased risk or need for screening (26,31,46). GC decliners also cited non-attendance due to feeling overwhelmed at the time of referral, either by their own cancer diagnosis and treatment, a relative's cancer diagnosis or other unrelated health problems or life stressors (11,20,29,31,44,48).…”