Genetics in medicine : official journal of the American College of Medical Genetics · 2026
Mainstreaming genetic testing: Evaluation of the Australian Familial Melanoma Clinic.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Berkman Jennifer, Primiero Clare, Snoswell Centaine, Wallingford Courtney K, Peach Betsy, DeBortoli Emily, Shen Xiaohua, Schaider Helmut, Khosrotehrani Kiarash, Yanes Tatiane, Soyer H Peter, McInerney-Leo Aideen
Аннотация
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.
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.