Abstract
In familial hypercholesterolemia (FH), carriers profit from presymptomatic diagnosis and early treatment. Due to the autosomal dominant pattern of inheritance, first degree relatives of patients are at 50% risk. A program to identify healthy relatives at risk of premature cardiovascular problems, funded by the Netherlands government until 2014, raised questions on privacy and autonomy in view of the chosen active approach of family members. Several countries are building cascade screening programs inspired by Dutch experience, but meanwhile, the Netherlands’ screening program itself is in transition. Insight in stakeholders’ views on approaching family members is lacking. Literature and policy documents were studied, and stakeholders were interviewed on pros and cons of actively approaching healthy relatives. Sociotechnical analysis explored new roles and responsibilities, with uptake, privacy, autonomy, psychological burden, resources, and awareness as relevant themes. Stakeholders agree on the importance of early diagnosis and informing the family. Dutch healthcare typically focuses on cure, rather than prevention. Barriers to cascade screening are paying an own financial contribution, limited resources for informing relatives, and privacy regulation. To benefit from predictive, personalized, and preventive medicine, the roles and responsibilities of stakeholders in genetic testing as a preventive strategy, and informing family members, need to be carefully realigned.
Original language | English |
---|---|
Pages (from-to) | 108 |
Number of pages | 1 |
Journal | Healthcare |
Volume | 6 |
Issue number | 3 |
DOIs | |
Publication status | Published - Sept 2018 |
Keywords
- cascade screening
- familial hypercholesterolemia
- personalized prevention
- sociotechnical analysis
- stakeholder analysis
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In: Healthcare, Vol. 6, No. 3, 09.2018, p. 108.
Research output: Contribution to journal › Article › Academic › peer-review
TY - JOUR
T1 - Stakeholder views on active cascade screening for familial hypercholesterolemia
AU - van El, Carla G
AU - Baccolini, Valentina
AU - Piko, Peter
AU - Cornel, Martina C
N1 - Funding Information: This research was conducted as part of the PRECeDI project (Personalized PREvention of Chronic Diseases) funded by the European Union?s Horizon 2020 research and innovation program MSCA-RISE-2014: Marie Sk?odowska-Curie Research and Innovation Staff Exchange (grant agreement number: 645740). Funding Information: In several European countries, initiatives were started to identify FH patients and trace family members using various approaches. The Netherlands is among the very few countries where a systematic screening program was introduced, and proved an inspiration to other countries [10,11]. The Dutch screening started in 1994 [12], was developed into a national screening program in 2004, and was characterized by the proactive tracing, direct contacting, informing, and testing of healthy family members of an index patient. After the addresses were obtained from the index, patient family members were asked to be visited and tested at home by a nurse employed as a genetic field worker at the Foundation for Tracing Familial Hypercholesterolemia (StOEH). For the index, patient complex genetic testing was performed at the laboratory of the Amsterdam University Medical Center. Once the mutation was identified, family members were only tested for the familial mutation, which was relatively cheap. The pedigrees and mutations were registered in a database, and whenever a new index was identified, the database was checked to see if this person might be related to a known family in the database, so genetic testing could be personalized. The program was found to be cost-effective [13]. The programme had always been regarded as a project, and when it started, it was expected that most carriers would have been detected by 2010, based upon an estimated heterozygote frequency of 1:500. When evidence accrued that the heterozygote frequency was actually >1:250, it became clear that not all carriers could be found by that year. The funding was extended from 2010 to 2013. Between 2004 and 2014, 15,000 FH patients were identified [8]. During this decade, financial support was provided by the Ministry of Health, and the program was coordinated by the National Institute of Public Health and the Environment (RIVM). Though successful, the screening program ended in 2014, leaving an estimated 40,000 of the expected 70,000 mutation carriers in the Netherlands unidentified. After 2014, other actors in regular healthcare were supposed to take over, coordinated by the newly established foundation LEEFH (Dutch Expertise Centre for Inheritance Testing of Cardiovascular Diseases). The budget was reduced, and strategies to approach healthy relatives had to be reconsidered. In the regular healthcare system, official inhabitants of the Netherlands have to purchase obligatory insurance of a “basic healthcare package”, for which persons with a low income receive governmental reimbursement. The insurance covers the financial costs after falling ill, and includes “indicated prevention” for persons at an individually increased risk, but not population screening and vaccination programs. The latter are typically funded from public health budgets. For individual healthcare cost, an “own risk” of 385€ (in 2018) applies for medication and hospital expenses per year, including laboratory testing. Since the ending of the publicly funded screening program in 2014, people may have to pay up to the amount of the own risk to get tested. Funding Information: When the cascade screening was an official program supported by the government, funding for the human resources and the DNA testing was provided from public health budgets. Now that regular healthcare has to integrate this preventive service, staff has to become available to actively support the provision of information to relatives. For counselling by internal medicine only recently has a tariff been agreed. Healthcare providers, such as lipidologists, or the nurse consultants in their department, are paid for counselling patients on informing their family members if their hospital also includes a genetics center. Clearly this raises a threshold for LEEFH centers operating in peripheral hospitals without a clinical genetics department. A barrier for a direct approach is the fact that healthcare insurance only covers when an individual patient visits the doctor with a question. Organizing a prevention program is not covered: Publisher Copyright: © 2018 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2018/9
Y1 - 2018/9
N2 - In familial hypercholesterolemia (FH), carriers profit from presymptomatic diagnosis and early treatment. Due to the autosomal dominant pattern of inheritance, first degree relatives of patients are at 50% risk. A program to identify healthy relatives at risk of premature cardiovascular problems, funded by the Netherlands government until 2014, raised questions on privacy and autonomy in view of the chosen active approach of family members. Several countries are building cascade screening programs inspired by Dutch experience, but meanwhile, the Netherlands’ screening program itself is in transition. Insight in stakeholders’ views on approaching family members is lacking. Literature and policy documents were studied, and stakeholders were interviewed on pros and cons of actively approaching healthy relatives. Sociotechnical analysis explored new roles and responsibilities, with uptake, privacy, autonomy, psychological burden, resources, and awareness as relevant themes. Stakeholders agree on the importance of early diagnosis and informing the family. Dutch healthcare typically focuses on cure, rather than prevention. Barriers to cascade screening are paying an own financial contribution, limited resources for informing relatives, and privacy regulation. To benefit from predictive, personalized, and preventive medicine, the roles and responsibilities of stakeholders in genetic testing as a preventive strategy, and informing family members, need to be carefully realigned.
AB - In familial hypercholesterolemia (FH), carriers profit from presymptomatic diagnosis and early treatment. Due to the autosomal dominant pattern of inheritance, first degree relatives of patients are at 50% risk. A program to identify healthy relatives at risk of premature cardiovascular problems, funded by the Netherlands government until 2014, raised questions on privacy and autonomy in view of the chosen active approach of family members. Several countries are building cascade screening programs inspired by Dutch experience, but meanwhile, the Netherlands’ screening program itself is in transition. Insight in stakeholders’ views on approaching family members is lacking. Literature and policy documents were studied, and stakeholders were interviewed on pros and cons of actively approaching healthy relatives. Sociotechnical analysis explored new roles and responsibilities, with uptake, privacy, autonomy, psychological burden, resources, and awareness as relevant themes. Stakeholders agree on the importance of early diagnosis and informing the family. Dutch healthcare typically focuses on cure, rather than prevention. Barriers to cascade screening are paying an own financial contribution, limited resources for informing relatives, and privacy regulation. To benefit from predictive, personalized, and preventive medicine, the roles and responsibilities of stakeholders in genetic testing as a preventive strategy, and informing family members, need to be carefully realigned.
KW - cascade screening
KW - familial hypercholesterolemia
KW - personalized prevention
KW - sociotechnical analysis
KW - stakeholder analysis
UR - http://www.scopus.com/inward/record.url?scp=85076673806&partnerID=8YFLogxK
U2 - https://doi.org/10.3390/healthcare6030108
DO - https://doi.org/10.3390/healthcare6030108
M3 - Article
C2 - 30200297
SN - 2227-9032
VL - 6
SP - 108
JO - Healthcare
JF - Healthcare
IS - 3
ER -