Patient decision making in the predictive genetics and prenatal clinics

Most genetics and pre-natal tests are carried out to confirm a diagnosis. Some people are offered tests for reasons that may be partly medical but where the patient’s personal views and preferences are at least as important (if not more important), than any medical reasons. The purpose of this research was to understand how patients make these personal decisions.<b>Consent - predictive genetics clinics</b>Patients of the predictive genetics clinic, who would be making decisions about testing, were identified by clinicians and sent an information sheet and an invitation to participate in the research. At the clinic, the clinician first secured oral consent from patients before turning on the audio recorder and recording the clinic. Consent was formally documented at the end of this appointment by a research associate, if the patient was still willing to contribute to the research. This process meant that the patient was in a position to understand what they were providing consent for.<b>Consent - prenatal clinics</b>Families booked to attend relevant clinics - prenatal genetics, fetal cardiology, fetal medicine - were sent a patient information sheet about this study (often by email but with the restriction that it was provided to the patient at least 24 hours before their clinic appointment) and were then asked, on arrival in clinic, whether they would be willing to meet with the researcher. When provisional consent was given, the ensuing consultation(s) were audio-recorded. After clinic, the researcher spoke with the patient or couple to give further information about the study and, when in agreement, the pregnant woman gave her formal consent to join the study.<b>The Data Collected</b>The data collected included observations of clinics, interviews and patient records of their reflections. The objective of the project was to understand how patients were making their decision WHETHER to proceed with a test. This meant that research methods were used to gather insights on how patients were reflecting on their decision at various points. Clinic observations provided insight on how patients were counselled about their decision, the patient<b>S'</b> personal records (diaries, text and audio notes) provided insight on how patients were thinking away from the clinic, while the interview provided an opportunity to gather patient reflections on the process.Data was collected at four sites in the UK.<b>The data included in this repository</b>The data in this repository includes the clinic observations and research interviews. As mentioned above, patients were also asked to keep a personal record of their reflections. Ten patients did keep some kind of record. These were designed to be flexible reflecting the multiplicity of methods of recording available to patients. Seven patients kept a written diary, one recorded voice notes on a dictaphone provided for that purpose, one exchanged text messages with a research associate, and one patient kept reflections using a notes application on a smart phone. These data have not been added to this repository due to concerns regarding the anonymity of participants.Predictive patient observations includes observations of pre-clinic sessions in which counsellors gathered relevant information about the patient, pre-test clinics, ‘talk and test’ (or ‘talk and blood draw’) clinics, and one results clinic. Pre-natal clinic observations included fetal cardiology clinics, fetal medicine clinics, and pre-natal genetic counselling clinics. Research interviews were conducted between 6 and 12 weeks after the patient had been discharged.Pre-natal patient observations include observations of a fetal cardiology clinic sessions, fetal medicine clinics and pre-natal genetic clinics. Unfortunately, data collection at clinics was terminated following access restrictions implemented with the onset of the COVID 19 pandemic. <b>Updates</b><br>This metadata description was updated to include details of omitted data, and to add some additional details to the description of consent process.<br>Table 1: Summary of dataLabel Condition Patient gender Age rangeB 1 Huntington's Disease Male 20-39C 1 Huntington's Disease Female 20-39C 2 Huntington's Disease Male 20-39C 3 Huntington's Disease Female 20-39C 4 Huntington's Disease Male 40-59C 5 Huntington's Disease Female 40-59C 6 Tetralogy of Fallot Female 20-39C 7 Tetralogy of Fallot Female 20-39C 8 Tetralogy of Fallot Female 20-39C 9 Huntington's Disease Female 40-59C 10 Huntington's Disease Female 16-19C 11 Lesch Nyhan Female 20-39C 12 Huntington's Disease Male 40-59C 13 Huntington's Disease Male UnassignedC 14 Huntington's Disease Male 20-39C 15 Huntington's Disease Female 20-39C 18 Osteogenesis imperfecta Female 20-39C 19 Huntington's Disease Female 20-39C 21 Downs Syndrome Female 20-39S 1 BRCA 1/2 Female 20-39S 2 BRCA 1/2 Female 20-39S 3 Motor neurone disease Female 20-39S 4 Huntington's Disease Male 20-39S 5 BRCA 1/2 Female UnassignedS 6 Huntington's Disease Female 16-19S 7 Pick's Disease Female 20-39S 8 Huntington's Disease Male UnassignedS 9 BRCA 1/2 Male 16-19S 10 BRCA 1/2 Female UnassignedS 11 BRCA 1/2 Female 20-39Ex 1 Motor neurone disease Female UnassignedEx 2 Huntington's Disease Male UnassignedEx 3 Huntington's Disease Female UnassignedSw 1 BRCA 1/2 Female 40-59Sw 2 MAX gene Male 60+Sw 4 MODY Female 20-39<br>