None listed
Conditions
Brief summary
Currently, genetic testing is recommended to be undertaken by genetics professionals (e.g. clinical geneticists, genetic counsellors) following appropriate counselling. This approach requires an additional referral to a genetics clinic which often has a long waiting list. This research explores the feasibility of “mainstreaming” genetic testing for MODY by allowing genetic testing to be arranged by non-genetics professionals and in this case to be arranged by Endocrinologists in their usual routine clinical setting. The advantage of mainstreaming is that it can be done at point of care, as a one-stop shop, for the patients, rather than having them referred to a genetics unit. A genetic mainstreaming model has been successfully trialled in oncology care to guide breast/ovarian cancer management. Leveraging Next Generation Sequencing technology, MODY represents an ideal non-cancer disease model for genomic mainstreaming, as its point-of-care diagnosis will guide tailored management in those newly diagnosed with diabetes.
Interventions
A single genetic testing visit of up to 40 minutes will occur for participants meeting the eligibility criteria. During this visit, two blood samples of up to 20mL each and one saliva sample of up to 5mL will be provided by the participant, samples will then be forwarded to the Exeter Laboratory in UK for clinical MODY genetic testing, etc.
Participants will complete MODY Psychosocial Questionnaire which incorporates 2 validated questionnaires (Satisfaction With Decision (SWD) Scale and The Ge
A single genetic testing visit of up to 40 minutes will occur for participants meeting the eligibility criteria. During this visit, two blood samples of up to 20mL each and one saliva sample of up to 5mL will be provided by the participant, samples will then be forwarded to the Exeter Laboratory in UK for clinical MODY genetic testing, etc. Participants will complete MODY Psychosocial Questionnaire which incorporates 2 validated questionnaires (Satisfaction With Decision (SWD) Scale and The Genetic Counselling Outcome Scale test) at the enrolment visits also. The results will be provided to participants by their treating Endocrinologist, e.g. within 6 weeks of the genetic testing visit. This visit will take about 30 min which includes the completion of the above mentioned Psychosocial Questionnaire. A 30-minute face-to-face semi-structured interview with the clinicians will be carried out at completion of patient visits. The interview aims to explore the comfort levels and support needs of non-genetics specialists in offering and discussing genetic testing with their patients.
Sponsors
St Vincent's Hospital, Sydney
Study design
Allocation
Non-randomised trial
Intervention model
Single group
Primary purpose
Diagnosis
Masking
Open (masking not used)
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Adult patients aged 18 years and over Diagnosed with either Type 1 or Type 2 Diabetes, and who meets the following additional criteria: Type 1 Diabetes Mellitus (MODY3 to be excluded) - Negative Antibodies AND at least one of: - Positive Family History - Positive C-peptide Understands written English Willingness to give written informed consent, and willingness to participate in and comply Willingness to undergo MODY genetic testing, after informed consent Clinician Interviews Endocrinologists working at St Vincent's Hospital Willingness to participate in study
Exclusion criteria
Patient who had previously undergone MODY genetic testing Patient who has a known family history of MODY diagnosed through genetic testing
Outcome results
None listed