Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Pros and Cons of an Active Approach
“We only asked them “who are your brothers and sisters?” and if it was okay, we contacted them and sent them letters… “Ok, in your family there is FH, do you want explanation?” and then within two weeks, we made a phone call to the brother asking “Did you receive this information? Is it clear? This is how the program works” and most of the time in 90% we made an appointment.”(Coord.:2)
“[Now] we can only phone, and also the nurses at the expertise centers can only phone the index patients asking them “have you talked to your brother, children?” to stimulate them. Then we send all the packages [for testing, C.G.v.E.], but then we do not get them back. If you actively approach, which is what we did, that was very, very effective”.(Coord.:1)
“It’s also emotionally very difficult for the index patient to have to tell to his brother or sister who lives far away that he has a genetic disease and it’s wise to get checked and also that there are consequences for his or her children.”(Coord.:1)
“…the more autonomy the better it is, but to have autonomy you should be informed… The best thing would be a screening program again but even if we have it back, even then, more attention would be needed for information for consenting autonomous people. We always need it, whatever system we have.”(Patient Org.)
“I think everybody is working 24 h a day, how good it is that you don’t have to come to an office to get your blood drawn from 9 to 10? No, I can understand it (that the old system was seen as paternalistic C.G.v.E.)…but my vision is completely different. I think it’s very modern and I think it would be good to continue that way because then you really get your samples and you find the patients.”(Coord.:1)
“It is not a reason to cut the program but this problem has always existed…very rarely someone informed me because (they said) “I’d rather not know”. The opposite happens many times.”(Patient Org.)
“I think it’s more of this time to first get this consent that you can approach these family members. I think by now most people have access to e-mail etc. So I think if we could have approached the family members directly, I would say by now you would do it by e-mail. And you will have a good e-mail about it and then you would ask the index patient: is it okay if I email this and this family member? And the index patient would say: you will receive an e-mail and they will inform you about this (FH) and if you don’t want it let me know. It’s true in a way that it’s a bit old fashioned and not very time effective to travel in a car and visit family members.”(Lipid.)
3.2. Roles and Responsibilities
“So if they see that a LEEFH center is not producing enough family members they should say what is wrong how can we help or what is needed?” (Lipid.). To perform the coordinating role is difficult, as one respondent put it there is “lack of people, lack of knowledge, lack of education”.(Clin. Genet.)
“The disadvantage of the STOEH-system was that only once the pedigree was made; they didn’t have any follow-up. What we do now is every time the patient is here, we check and update the pedigree, maybe new children are born or people died.”(Lipid.)
“Yes, we are trying also to collaborate and to learn from the expertise of the clinical geneticists: although it is not a very heavy disease and it’s very easily treated, the cascade screening is difficult. It is difficult to reach the family of the index patient and we think that clinical geneticists have much more experience with that but what we are trying to do is to keep the medical care of the index patients and their families where they belong, which is the internist or a cardiologist. That’s why we are making this whole network: we don’t want the patient to be referred to all kinds of different stations for finding his whole family. We want to give the advice at the local out-patient clinics so that’s what we are trying to do, to optimize that.”(Coord.:1)
“We had a discussion…, that also in clinical genetics there is the discussion on what is the approach to the family members, what is allowed or not. In two ways, it is allowed on ethical grounds; are you allowed as a physician to contact a family member who doesn’t know anything, and also financial, because the healthcare insurance companies say “you can only act when there is a disease and the patients come to you”. But…an active approach…is prevention, it is not healthcare.”(Coord.:2)
“But I think that the role of the genetic fieldworkers or nurses…always [have] more time to talk with people and to inform them than doctors; the specialist or also general physicians, they don’t take or have time, but nurse practitioners who do have some time…I think they should be more in charge in this process.”(Patient Org.)
“I think there is some plus in having nurse practitioners coming from the area in which the disease is involved. But you can also have nurse practitioners from the genetics. It can be possible. And probably a mix would be perfect. But they should be trained.”(Clin. Genet.)
“So a lot of times the GP says do it at your place [hospital] but if a patient for some reason, e.g., economical reasons, says it’s too expensive in the hospital and I want to go back to my GP, we urge the GP to also check the family members.”(Lipid.)
“I think this cascade screening is really aiming at…living better and longer. For all these [hereditary] diseases. So in my view this is prevention. And it should be paid not from the budget of health care but by the national prevention budget. And in my view here there is a task for RIVM … it should be a national program, a screening program for genetic known diseases in which there are actionable interventions. Then we have a national program, we have a national database and it is much cheaper and, more importantly, we can also give care at a very high systematic similar level to all these people. Because one of the problems now is that carriers are informed by the GP, by this person, by that person, all kinds of persons and they tell them very different stories… If we have a centre in which all care is coordinated and information is coordinated…[They] can be factually informed and really helped during their path.”(Clin. Genet.)
3.3 Resources and Awareness
“[Health care insurance companies] have to agree that if we actively approach family members who might have FH that they are still insured although it’s the health care system that approaches them instead of them…approaching the health care system with a question.”(Lipid.)
“Do they [health insurance companies] think that actively approaching FH patients or family members is insured healthcare or not. They’ve been too vague about it. So for me it’s unsure what they mean.”(Lipid.)
“And an important difference between having a population screening and not having is awareness, because of…the capacity of publishing things, so people know it exists and especially general practitioners are remembered time to time of these people and there are happening things around such a program.”(Patient Org.)
“You should have some way to reach big groups and that would be via media, television, radio, YouTube, Facebook. Because if people read things like that, then they start thinking maybe I should get tested…”(Consult.)
4. Discussion
Supplementary Materials
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
- Nordestgaard, B.G.; Chapman, M.J.; Humphries, S.E.; Ginsberg, H.N.; Masana, L.; Descamps, O.S.; Wiklund, O.; Hegele, R.A.; Raal, F.J.; Defesche, J.C.; et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease: Consensus statement of the European Atherosclerosis Society. Eur. Heart J. 2013, 34, 3478–3490. [Google Scholar] [CrossRef] [PubMed]
- Austin, M.A.; Hutter, C.M.; Zimmern, R.L.; Humphries, S.E. Familial hypercholesterolemia and coronary heart disease: A HuGE association review. Am. J. Epidemiol. 2004, 160, 421–429. [Google Scholar] [CrossRef] [PubMed]
- Soutar, A.K. Rare genetic causes of autosomal dominant or recessive hypercholesterolaemia. IUBMB Life 2010, 62, 125–131. [Google Scholar] [CrossRef] [PubMed]
- Goldberg, A.C.; Hopkins, P.N.; Toth, P.P.; Ballantyne, C.M.; Rader, D.J.; Robinson, J.G.; Daniels, S.R.; Gidding, S.S.; De Ferranti, S.D.; Ito, M.K.; et al. Familial hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J. Clin. Lipidol. 2011, 5, S1–S8. [Google Scholar] [CrossRef] [PubMed]
- Pang, J.; Lansberg, P.J.; Watts, G.F. International developments in the care of familial hypercholesterolemia: Where now and where to next? J. Atheroscler. Thromb. 2016, 23, 505–519. [Google Scholar] [CrossRef] [PubMed]
- Migliara, G.; Baccolini, V.; Rosso, A.; D’Andrea, E.; Massimi, A.; Villari, P.; De Vito, C. Familial hypercholesterolemia: A systematic review of guidelines on genetic testing and patient management. Front. Public Health 2017, 5, 252. [Google Scholar] [CrossRef] [PubMed]
- Robinson, J.G.; Goldberg, A.C. Treatment of adults with familial hypercholesterolemia and evidence for treatment: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J. Clin. Lipidol. 2011, 5, S18–S29. [Google Scholar] [CrossRef] [PubMed]
- Carpay, M.E.M.; Van Der Horst, A.; Hoebee, B. Eindrapportage Bevolkingsonderzoek naar Familiaire Hypercholesterolemie: Organisatie en Opbrengsten—RIVM Briefrapport 2014-0152. Available online: http://www.rivm.nl/bibliotheek/rapporten/2014-0152.pdf (accessed on 10 July 2018).
- Newson, A.J.; Humphries, S.E. Cascade testing in familial hypercholesterolaemia: How should family members be contacted? Eur. J. Hum. Genet. 2005, 13, 401–408. [Google Scholar] [CrossRef] [PubMed]
- Paul, C. Familial Hypercholesterolaemia: Identification and Management; National Institute for Health and Care Excellence: London, UK, 2008. [Google Scholar]
- Rubio-Marín, P.; Michán-Doña, A.; Maraver-Delgado, J.; Arroyo-Olivares, R.; Varea, R.B.; De Isla, L.P.; Mata, P. Cascade screening program for familial hypercholesterolemia. Endocrinol. Diabetes Nutr. 2018, 65, 280–286. [Google Scholar] [CrossRef] [PubMed]
- Umans-Eckenhausen, M.A.; Defesche, J.C.; Sijbrands, E.J.G.; Scheerder, R.L.J.M.; Kastelein, J.J.P. Review of first 5 years of screening for familial hypercholesterolaemia in The Netherlands. Lancet 2001, 357, 165–168. [Google Scholar] [CrossRef]
- Pears, R.; Griffin, M.; Futema, M.; Humphries, S. Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia. Curr. Opin. Lipidol. 2015, 26, 162–168. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Dumay, A.C.M. Advies Opsporing Familiaire Hypercholesterolemie: RIVM-Centrum voor Bevolkingsonderzoek. Available online: http://docplayer.nl/36269614-Advies-opsporing-familiaire-hypercholesterolemie-rivm-centrum-voor-bevolkingsonderzoek.html (accessed on 28 August 2018).
- Louter, L.; Defesche, J.; Van Lennep, J.R. Cascade screening for familial hypercholesterolemia: Practical consequences. Atheroscler. Suppl. 2017, 30, 77–85. [Google Scholar] [CrossRef] [PubMed]
- Galema-Boers, J.M.; Versmissen, J.; Van Lennep, H.W.R.; Dusault-Wijkstra, J.E.; Williams, M.; Van Lennep, J.E.R. Cascade screening of familial hypercholesterolaemia must go on. Atherosclerosis 2015, 242, 415–417. [Google Scholar] [CrossRef] [PubMed]
- Schipper, E.I. Letter of the Minister of Health, Welfare and Sport to the House of Commons, The Hague 30 September 2016, Parliamentary Documentation 32793-239. Available online: https://www.tweedekamer.nl/kamerstukken/brieven_regering/detail?id=2016Z17909&did=2016D36825 (accessed on 30 August 2018).
- Achterbergh, R.; Lakeman, P.; Stemerding, D.; Moors, E.H.M.; Cornel, M.C. Implementation of preconceptional carrier screening for cystic fibrosis and haemoglobinopathies: A sociotechnical analysis. Health Policy 2007, 83, 277–286. [Google Scholar] [CrossRef] [PubMed]
- Rigter, T.; Henneman, L.; Broerse, J.E.W.; Shepherd, M.; Blanco, I.; Kristoffersson, U.; Cornel, M.C. Developing a framework for implementation of genetic services: Learning from examples of testing for monogenic forms of common diseases. J. Community Genet. 2014, 5, 337–347. [Google Scholar] [CrossRef] [PubMed]
- Menko, F.H.; Aalfs, C.M.; Henneman, L.; Stol, Y.; Wijdenes, M.; Otten, E.; Ploegmakers, M.M.; Legemaate, J.; Smets, E.M.; De Wert, G.M.; et al. Dutch society for clinical genetics. Fam. Cancer 2013, 12, 319–324. [Google Scholar] [CrossRef] [PubMed]
- Hoedemaekers, Y.M.; Knoers, N.; Van Langen, I. Familieonderzoek FH kan binnen de reguliere zorg. Medisch Contact 2014, 43, 2116–2118. [Google Scholar]
- Kroes, M.E.; Mastenbroek, C.G.; Couwenbergh, B.T.L.E.; Zan Eijndhoven, M.J.A.; Festen, C.C.S.; Rikken, F. Van Preventie Verzekerd. Available online: https://www.zorginstituutnederland.nl/publicaties/rapport/2007/07/16/van-preventie-verzekerd (accessed on 10 July 2018).
- Jorritsma, E.; Van Steenbergen, E. Gevaarlijke Genen: Dat Wist het Ziekenhuis. Available online: https://www.nrc.nl/nieuws/2015/08/27/gevaarlijke-genen-dat-wist-het-ziekenhuis-1527031-a449290 (accessed on 4 August 2018).
- Kwant, L. De Genetici Moeten Toezien op Inlichten Familie. Available online: https://www.medischcontact.nl/nieuws/laatste-nieuws/artikel/genetici-moeten-toezien-op-inlichten-familie.htm (accessed on 4 August 2018).
Stakeholder | Roles in FH Screening | Abbreviation Interviews |
---|---|---|
Patient organization | Patient advocacy | (Patient Org.) |
Coordinator LEEFH | Coordinating role in FH care; update database | (Coord.:1); (Coord.:2) |
Nurse consultant | Inform about FH, make pedigree, support index with informing family by providing information | (Consult.) |
Lipidologist | Internal medicine or vascular specialist, involved in FH diagnosis, care and treatment | (Lipid.) |
Clinical geneticist | Genetic testing, counselling, support informing family members | (Clin. Genet.) |
© 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
Share and Cite
Van El, C.G.; Baccolini, V.; Piko, P.; Cornel, M.C. Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia. Healthcare 2018, 6, 108. https://doi.org/10.3390/healthcare6030108
Van El CG, Baccolini V, Piko P, Cornel MC. Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia. Healthcare. 2018; 6(3):108. https://doi.org/10.3390/healthcare6030108
Chicago/Turabian StyleVan El, Carla G., Valentina Baccolini, Peter Piko, and Martina C. Cornel. 2018. "Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia" Healthcare 6, no. 3: 108. https://doi.org/10.3390/healthcare6030108