Table 2.
Analysis of changes within the constellations towards existing services for monogenic disorders
| Diagnostic Genetic Testing for Maturity Onset Diabetes of the Young (MODY) in the UK | Cardiogenetic Services, South Sweden | Hereditary Cancer Program in Catalonia, Spain | |
|---|---|---|---|
| Constellation | Diabetes care in the UK | Cardiology in South Sweden | Oncology in Catalonia |
| Niche experiment | Deepening/Broadening | Broadening/Scaling up | Scaling up |
| Function | From general diabetes care for all diabetic patients to specialized services for patients with monogenic diabetes. | From occasional cascade screening with sudden cardiac death of cardiomyopathy to a multidisciplinary network with (regional) guidelines | From incidental detection and counselling of people at increased risk of hereditary cancer to systematic service provision |
| Structure | - From unstructured/fragmented care to structured services for MODY - From individual initiatives to a central referral center for monogenic patients - From patches of knowledge about MODY to “spreading the word” through genetic diabetes nurses - From no funding, to research funded testing, to testing provided by the local health care provider |
- From individual initiatives to a structured network with guidelines - From single specialist to multidisciplinary approach |
- From individual initiatives to centralized care - From unstructured to structured services - From single specialist to multidisciplinary approaches |
| Culture | - From (type 1/2) diabetes as a clear diagnosis to genetic forms of diabetes as a separate subgroup - From initial focus on healthy blood-sugar levels to focus on the right (genetic) diagnosis and appropriate treatment |
- From individual case to family care - From treatment to presymptomatic counselling and follow-up |
- From individual patient to family care - From focus on treatment to pre-symptomatic counselling and follow-up |
| Practice | - From no specific attention for MODY patients to accustomed services | - From little specific attention to family members of cardiac patients to structured service provision | - From no specific attention to family members of patients with hereditary cancer to a tailored service |
| Main change agent(s) | A consultant diabetologist, molecular geneticist and a diabetes specialist nurse who joined forces and started training genetic diabetes nurses to educate diabetes teams about monogenic diabetes. | Cardiologist who activated a group of enthusiasts to form a network | Oncologist, geneticist and a nurse who joined forces and started a Cancer Genetic Counselling Unit |
| Main persistency in current phase | Finding stable long-term funding for ongoing training for genetic diabetes nurses | Regional initiatives (until 2011), first national meetings in 2012 | Regional Services are trying to build a National Web, and services available are mainly focused on oncology (difficult to convince other disciplines) |