The uptake of pan‐ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling

2019 ◽  
Vol 39 (4) ◽  
pp. 319-323 ◽  
Author(s):  
Dana Larsen ◽  
Jingmei Ma ◽  
Melissa Strassberg ◽  
Rajesh Ramakrishnan ◽  
Ignatia B. Van den Veyver
Keyword(s):  
Genetic Counseling ◽  
Carrier Screening ◽  
Prenatal Genetic Counseling ◽  
Expanded Carrier Screening

scholarly journals Public Knowledge about Monogenic Diseases and Attitudes Toward Expanded Carrier Screening in China

2021 ◽  
Author(s):  
Jing Yang ◽  
Min Chen ◽  
Heli Wu ◽  
Wei Shen ◽  
Jianmei Han ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
General Population ◽  
Ethnic Groups ◽  
Medical Staff ◽  
Carrier Screening ◽  
Monogenic Disease ◽  
Public Knowledge ◽  
Qr Code ◽  
Expanded Carrier Screening ◽  
Monogenic Diseases

Abstract Monogenic diseases affect about 10 in 1000 live births globally and account for 20% of infant mortality and 18% of pediatric hospitalizations. Many monogenic disorders could be prevented by offering expanded carrier screening (ECS) to the general population. China is a densely populated country with 56 ethnic groups and a high incidence of congenital disabilities. Genetic variation in different ethnic groups in China has been reported. At present, the implementation of ECS in China is sporadic. There is limited data on the knowledge and acceptance of ECS in China. The purpose of our study was to assess public knowledge about monogenic diseases and attitudes toward ECS in China. Our study classified the population into the medical staff and general population to evaluate the knowledge gap and provide a reference for ECS's education programs. Using the Questionnaire Star platform, we provided the QR code of the questionnaire survey online for the general public nationwide. The respondents filled in the questionnaires through the mobile phone after scanning the WeChat QR code. We found that although the public had little knowledge about monogenic disease and ECS, most of them showed a positive attitude. Our cross-analysis showed that medical staff had more knowledge compared to the general population. Pre-test education for ECS can be carried out by medical staff who are not qualified for genetic counseling. ECS training for medical staff, especially obstetrician-gynecologist and nurse in the department of Obstetrics and Gynecology, can reduce the workload of genetic counseling.

scholarly journals Fragile X syndrome carrier screening in the prenatal genetic counseling setting

2005 ◽  
Vol 7 (4) ◽  
pp. 246-250 ◽  
Author(s):  
Amy Cronister ◽  
Miriam DiMaio ◽  
Maurice J Mahoney ◽  
Alan E Donnenfeld ◽  
Stephanie Hallam
Keyword(s):  
Genetic Counseling ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Carrier Screening ◽  
Prenatal Genetic Counseling

scholarly journals Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer

2021 ◽  
Author(s):  
Ivy van Dijke ◽  
Phillis Lakeman ◽  
Naoual Sabiri ◽  
Hanna Rusticus ◽  
Cecile P. E. Ottenheim ◽  
...  
Keyword(s):  
High Risk ◽  
Medical Center ◽  
Informed Choice ◽  
Carrier Screening ◽  
University Hospital ◽  
Structured Interviews ◽  
Expanded Carrier Screening ◽  
Post Test ◽  
Future Child ◽  
Clinically Significant

AbstractPreconception carrier screening offers couples the possibility to receive information about the risk of having a child with a recessive disorder. Since 2016, an expanded carrier screening (ECS) test for 50 severe autosomal recessive disorders has been available at Amsterdam Medical Center, a Dutch university hospital. This mixed-methods study evaluated the experiences of couples that participated in the carrier screening offer, including high-risk participants, as well as participants with a general population risk. All participants received genetic counselling, and pre- (n = 132) and post-test (n = 86) questionnaires and semi-structured interviews (n = 16) were administered. The most important reason to have ECS was to spare a future child a life with a severe disorder (47%). The majority of survey respondents made an informed decision (86%), as assessed by the Multidimensional Measure of Informed Choice. Among the 86 respondents, 27 individual carriers and no new carrier couples were identified. Turn-around time of the test results was considered too long and costs were perceived as too high. Overall, mean levels of anxiety were not clinically elevated. High-risk respondents (n = 89) and pregnant respondents (n = 13) experienced higher levels of anxiety before testing, which decreased after receiving the test result. Although not clinically significant, distress was on average higher for carriers compared to non-carriers (p < 0.0001). All respondents would opt for the test again, and 80.2% would recommend it to others. The results suggest that ECS should ideally be offered before pregnancy, to minimise anxiety. This study could inform current and future implementation initiatives of preconception ECS.

What women want: General population perspectives and access to preconception expanded carrier screening

2021 ◽  
Author(s):  
Liya Rabkina ◽  
Amy Swanson ◽  
Sharon Aufox ◽  
Lauren Propst ◽  
Morris Fiddler ◽  
...  
Keyword(s):  
General Population ◽  
Carrier Screening ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening

scholarly journals Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population

2021 ◽  
Author(s):  
Thirsa Conijn ◽  
Ivy van Dijke ◽  
Lotte Haverman ◽  
Phillis Lakeman ◽  
Frits A Wijburg ◽  
...  
Keyword(s):  
General Population ◽  
Focus Groups ◽  
Autosomal Recessive Disorder ◽  
Carrier Screening ◽  
Test Results ◽  
Focus Group Study ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening ◽  
Mps Iii ◽  
Prospective Parents

AbstractPreconception expanded carrier screening (ECS) enables prospective parents to assess their risk of having a child with an autosomal recessive disorder. Knowledge on motivations, feelings, and considerations people have towards the offer and use of ECS is limited. To enrich the public and professional discussion on ECS implementation, this study explored the perspectives towards various aspects of ECS in seven focus groups compromising first- and second-degree relatives of MPS III patients (N=9, N=4, N=5, N=5) and members of the general Dutch population (N=6, N=7, N=5). The focus groups were audio recorded and the transcripts were qualitatively analyzed to identify themes. Both relatives of MPS III patients and participants from the general population supported offering ECS, in particular for severe, childhood-onset disorders. Important barriers identified for ECS were a lack of genetic knowledge and a perceived lack of personal relevance and awareness, as well as out-of-pocket costs of testing. The majority of participants would prefer full disclosure of individual test results instead of couple-based test results. Moreover, offering people a choice for the way of reporting was proposed. All participants agreed that more efforts, for example by governmental campaigns, should be made to increase awareness on the availability, potentials, and limitations of ECS. Educating prospective parents about ECS is essential for increasing awareness and informed decision making. This study provides valuable insights that can be used by governments and public health authorities when considering implementation of preconception ECS.

Expanded Carrier Screening and the Complexity of Implementation

2021 ◽  
Vol 137 (5) ◽  
pp. 959-960
Author(s):  
Bryce A. Mendelsohn
Keyword(s):  
Carrier Screening ◽  
Expanded Carrier Screening

scholarly journals Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists’ views

2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Sandra Janssens ◽  
Davit Chokoshvili ◽  
Danya F. Vears ◽  
Anne De Paepe ◽  
Pascal Borry
Keyword(s):  
Carrier Screening ◽  
Expanded Carrier Screening

Do Notions of Risk Inform Patient Choice? Lessons from a Study of Prenatal Genetic Counseling

2006 ◽  
Vol 25 (3) ◽  
pp. 193-219 ◽  
Author(s):  
LINDA M. HUNT ◽  
HEIDE CASTAÑEDA ◽  
KATHERINE B. DE VOOGD
Keyword(s):  
Genetic Counseling ◽  
Patient Choice ◽  
Prenatal Genetic Counseling

Expanded Carrier Screening and Professional Society Guidelines

2018 ◽  
Vol 131 ◽  
pp. 54S
Author(s):  
Maggie Westemeyer ◽  
Jennifer Saucier ◽  
Bert Gold ◽  
Herman Hedriana ◽  
Kimberly A. Martin
Keyword(s):  
Carrier Screening ◽  
Professional Society ◽  
Expanded Carrier Screening

scholarly journals Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions

2019 ◽  
Author(s):  
Marie Balzotti ◽  
Linyan Meng ◽  
Dale Muzzey ◽  
Katherine Johansen Taber ◽  
Kyle Beauchamp ◽  
...  
Keyword(s):  
Experimental Evidence ◽  
Strong Evidence ◽  
Clinical Guidelines ◽  
Disease Association ◽  
Carrier Screening ◽  
Clinical Validity ◽  
Expanded Carrier Screening ◽  
Acceptable Method ◽  
Consistent Application

AbstractObjectiveClinical guidelines consider expanded carrier screening (ECS) to be an acceptable method of carrier screening. However, broader guideline support and payer adoption require evidence for associations between the genes on ECS panels and the conditions for which they aim to identify carriers. We applied a standardized framework for evaluation of gene-disease association to assess the clinical validity of conditions screened by ECS panels.MethodsThe ClinGen gene curation framework was used to assess genetic and experimental evidence of associations between 208 genes and conditions screened on two commercial ECS panels. Twenty-one conditions were previously classified by ClinGen, and the remaining 187 were evaluated by curation teams at two laboratories. To ensure consistent application of the framework across the laboratories, concordance was evaluated on a subset of conditions.ResultsAll 208 evaluated conditions met the evidence threshold for supporting a gene-disease association. Furthermore, 203 of 208 (98%) achieved the strongest (“Definitive”) level of gene-disease association. All conditions evaluated by both commercial laboratories were similarly classified.ConclusionAssessment using the ClinGen standardized framework revealed strong evidence of gene-disease association for conditions on two ECS panels. This result establishes the disease-level clinical validity of the panels considered herein.

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