Related Experiment Video
Updated: Oct 3, 2026
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Mainstreaming genetic testing: Evaluation of the Australian Familial Melanoma Clinic
Jennifer Berkman1, Clare Primiero2, Centaine Snoswell3
1Frazer Institute, The University of Queensland, Dermatology Research Centre, Brisbane, QLD; Department of Dermatology, Princess Alexandra Hospital, Brisbane, QLD, Australia.
Purpose:
Familial melanoma genetic testing (GT) guides management but is rarely offered due to limited clinical genetics capacity. We used the RE-AIM framework to evaluate a new Australian Familial Melanoma Clinic (FMC), which integrated comprehensive dermatology examination and GT.
Methods:
To inform the RE-AIM domains, demographic and clinical data were collected prospectively. A cost-minimization approach compared costs per patient associated with an embedded genetic counselor in a specialist department compared with referral to specialist genetics services. Experiential training of dermatology clinicians was evaluated qualitatively to capture impact. Data were mapped to the RE-AIM domains.
Results:
284 patients (September 2021-August 2024) were referred predominantly by general practitioners (43%) and dermatologists (26%). 256/284 (90%) were eligible, 246/256 (96%) accepted testing, and 37/246 (15%) tested positive (probands and relatives). Average staffing costs/patient were $83 (FMC) and $125 (genetics service). Total costs/patient, excluding infrastructure costs, were $560 and $620 for the FMC and genetics service, respectively. FMC benefits included improved GT access and fewer appointments. Clinicians reported high satisfaction and increased genomic confidence.
Conclusion:
The embedded genetic counselor model improved access to melanoma GT alongside streamlined dermatological assessment for high-risk individuals. Testing uptake was high, the model-of-care is cost-effective, and clinicians reported positive experiences.
