TY - JOUR
T1 - International perspectives on the implementation of reproductive carrier screening
AU - Delatycki, Martin B
AU - Alkuraya, Fowzan
AU - Archibald, Alison
AU - Castellani, Carlo
AU - Cornel, Martina
AU - Grody, Wayne W
AU - Henneman, Lidewij
AU - Ioannides, Adonis S
AU - Kirk, Edwin
AU - Laing, Nigel
AU - Lucassen, Anneke
AU - Massie, John
AU - Schuurmans, Juliette
AU - Thong, Meow-Keong
AU - van Langen, Irene
AU - Zlotogora, Joël
N1 - Funding Information: Screening Available Termination of Pregnancy for Genetic Disorders Preimplantation Genetic Testing—Monogenic Disorders Australia Hemoglobinopathy screening government funded. Other RCS in the absence of family history is user pays. Legal and government funded Available, partially government funded, partially user pays Cyprus Hemoglobinopathy and Friedreich ataxia screening are government funded. Legal and government funded Available, partially government funded, partially user pays Israel Screening available for all severe diseases with an incidence higher than 1 in 15 000 and is government funded Legal and funded by National Health insurance Available and funded by National Health insurance for a maximum of two children Italy Hemoglobinopathy screening government funded. CF screening in the absence of family history on a regional basis: in some areas regional government funded with a nominal fee, in other areas user pays. Legal and government funded Available. Government funded in one Institution, user pays in several others. Malaysia Hemoglobinopathy screening government funded. Other RCS is user pays. Legal and government funded at public hospitals if maternal health is at risk. Available in selected private health care facilities and is user pays. Netherlands Hemoglobinopathy screening by HPLC/electrophoresis is reimbursed. Two hospitals offer expanded RCS (50‐70 disorders) that is reimbursed in high‐risk couples but is user pays in the absence of family history or other high‐risk indication. One hospital offers RCS (>1900 genes) for consanguineous couples that is reimbursed . Screening in one specific Dutch founder population is reimbursed . Legal up to 24 weeks pregnancy and government funded. Available, three cycles government funded . Saudi Arabia Hemoglobinopathy screening government‐mandated and funded. Targeted screening for familial mutations optional and government‐funded. Optional expanded carrier screening soon to be launched and government‐funded. Legal and government funded for strict indications and with a strict upper gestation limit. Available and government funded. UK Hemoglobinopathy and Tay‐Sachs disease screening state‐funded (and offered as population screen depending on ancestry). Other screening is state funded if family history of a condition. User pays for testing outside of National Health Service (NHS) eg fertility clinic. State‐funded and legal but very restricted in Northern Ireland. Available for conditions licenced by Human Fertilisation and Embryology Authority, partially government funded, partially user pays. USA Mix of government, private insurance, and self‐pay. Varies widely by state; where legal and available, government or insurance funded with prior authorization; other states have severe legal restrictions and no financial coverage; no federal government funding under the Hyde Amendment. Varies by state; some pay (in part) for PGT‐M but not IVF; many procedures are self‐pay. Reimbursement by health insurance. The mandatory insurance deductible in 2019 is € 385 per calendar year. As this is a review article, no approval from a Human Research Ethics Committee was required. Similarly, there are no original data presented in this review so data sharing is not relevant to this article. Publisher Copyright: © 2019 John Wiley & Sons, Ltd. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/2/1
Y1 - 2020/2/1
N2 - Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X-linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry-based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.
AB - Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X-linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry-based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.
UR - http://www.scopus.com/inward/record.url?scp=85075717174&partnerID=8YFLogxK
U2 - https://doi.org/10.1002/pd.5611
DO - https://doi.org/10.1002/pd.5611
M3 - Review article
C2 - 31774570
SN - 0197-3851
VL - 40
SP - 301
EP - 310
JO - Prenatal diagnosis
JF - Prenatal diagnosis
IS - 3
ER -