Qualitative study of GPs’ views and experiences of population-based preconception expanded carrier screening in the Netherlands: bioethical perspectives

ObjectiveBetween 2016 and 2017, a population-based preconception expanded carrier screening (PECS) test was developed in the Netherlands during a pilot study. It was subsequently made possible in mid-2018 for couples to ask to have such a PECS test from specially trained general practitioners (GPs). Research has described GPs as crucial in offering PECS tests, but little is known about the GPs’ views on PECS and their experiences of providing this test. This article presents a thematic analysis of the PECS practice from the perspective of GPs and a bioethical discussion of the empirical results.DesignEmpirical bioethics. A thematic analysis of qualitative semi-structured interviews was conducted, and is combined with an ethical/philosophical discussion.SettingThe Netherlands.Participants7 Dutch GPs in the Netherlands, interviewed in 2019–2020.ResultsTwo themes were identified in the thematic analysis: ‘Choice and its complexity’ and ‘PECS as prompting existential concerns’. The empirical bioethics discussion showed that the first theme highlights that several areas coshape the complexity of choice on PECS, and the need for shared relational autonomous decision-making on these areas within the couple. The second theme highlights that it is not possible to analyse the existential issues raised by PECS solely on the level of the couple or family. A societal level must be included, since these levels affect each other. We refer to this as ‘entangled existential genetics’.ConclusionThe empirical bioethical analysis leads us to present two practical implications. These are: (1) training of GPs who are to offer PECS should cover shared relational autonomous decision-making within the couple and (2) more attention should be given to existential issues evoked by genetic considerations, also during the education of GPs and in bioethical discussions around PECS.

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

Prenatal Diagnosis ◽

10.1002/pd.5995 ◽

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

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

Journal of Community Genetics ◽

10.1007/s12687-021-00519-2 ◽

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.

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Expanded carrier screening for recessively inherited genetic disorders: factors in decision-making when one individual in a couple is identified as a carrier

Fertility and Sterility ◽

10.1016/j.fertnstert.2019.07.1008 ◽

2019 ◽

Vol 112 (3) ◽

pp. e351

Author(s):

Alice J. Shapiro ◽

Molly M. Quinn

Keyword(s):

Decision Making ◽

Genetic Disorders ◽

Carrier Screening ◽

Expanded Carrier Screening

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Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes

Journal of Genetic Counseling ◽

10.1002/jgc4.1332 ◽

2020 ◽

Author(s):

Thirsa Conijn ◽

Stephanie C. M. Nijmeijer ◽

Phillis Lakeman ◽

Lidewij Henneman ◽

Frits A. Wijburg ◽

...

Keyword(s):

Carrier Screening ◽

Genetic Knowledge ◽

Expanded Carrier Screening ◽

Knowledge And Attitudes ◽

Preconception Expanded Carrier Screening

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Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples

10.1101/069393 ◽

2016 ◽

Cited By ~ 3

Author(s):

Caroline Ghiossi ◽

James D. Goldberg ◽

Imran S. Haque ◽

Gabriel A. Lazarin ◽

Kenny K. Wong

Keyword(s):

Decision Making ◽

At Risk ◽

Clinical Utility ◽

Carrier Screening ◽

Reproductive Behaviors ◽

Reproductive Risk ◽

Expanded Carrier Screening ◽

Reproductive Decision Making ◽

Recessive Genes ◽

Professional Guidelines

ABSTRACTPurposeExpanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes for determining reproductive risk. Data on clinical utility of screening conditions beyond professional guidelines is scarce.MethodsIndividuals underwent ECS for up to 110 genes. 537 at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results.Results64 eligible ARC completed the survey. Of 45 respondents screened preconceptionally, 62% (n=28) planned IVF with PGD or prenatal diagnosis (PNDx) in future pregnancies. 29% (n=13) were not planning to alter reproductive decisions. The remaining 9% (n=4) of responses were unclear.Of 19 pregnant respondents, 42% (n=8) elected PNDx, 11% (n=2) planned amniocentesis but miscarried, and 47% (n=9) considered the condition insufficiently severe to warrant invasive testing. Of the 8 pregnancies that underwent PNDx, 5 were unaffected and 3 were affected. 2 of 3 affected pregnancies were terminated.Disease severity was found to have significant association (p=0.000145) with changes in decision making, whereas guideline status of diseases, controlled for severity, was not (p=0.284).ConclusionMost ARC altered reproductive planning, demonstrating the clinical utility of ECS. Severity of conditions factored into decision making.

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Treatment patterns and associated factors in patients with advanced epithelial ovarian cancer: a population-based study

International Journal of Gynecological Cancer ◽

10.1136/ijgc-2019-000489 ◽

2019 ◽

Vol 29 (6) ◽

pp. 1032-1037 ◽

Cited By ~ 3

Author(s):

Myrte Zijlstra ◽

Maite Timmermans ◽

Heidi Fransen ◽

Maaike van der Aa ◽

An Reyners ◽

...

Keyword(s):

Ovarian Cancer ◽

Decision Making ◽

The Netherlands ◽

Epithelial Ovarian Cancer ◽

Associated Factors ◽

Population Based ◽

Treatment Patterns ◽

Population Based Study ◽

Poor Condition ◽

Advanced Epithelial Ovarian Cancer

ObjectivesA significant proportion of women with advanced-stage ovarian cancer receive no cancer-directed treatment and limited research has been devoted to this group. This population-based study aimed to gain insight into treatment patterns and trends in patients with advanced epithelial ovarian cancer in the Netherlands and the main reasons for deciding for no cancer-directed treatment.MethodsAll patients diagnosed with advanced epithelial ovarian cancer, International Federation of Gynecology and Obstetrics (FIGO) classification IIB−IV, between 2008 and 2016 were identified from the Netherlands Cancer Registry. Trends in the number of patients receiving cancer-directed treatment were analyzed. Multivariable logistic regression analysis was used to identify factors associated with no cancer-directed treatment. The main reasons for no cancer-directed treatment were analyzed.ResultsA total of 9303 patients were included, of whom 14% (n=1270) received no cancer-directed treatment while 67% (n=6218) received a combination of cytoreductive surgery and chemotherapy. Some 15% (n=1399) received chemotherapy only, and 4.5% (n=416) surgical resection or hormonal therapy only. The proportion of patients receiving no cancer-directed treatment was higher in 2014–2016 (16%, n=496/3175) compared with 2008–2010 (11%, n=349/3057, p<0.001). Associated factors with no cancer-directed treatment were higher age, FIGO stage IV, lower socioeconomic status, co-morbidity, and more recent years of diagnosis (p<0.001). Main reasons for no cancer-directed treatment were patient’s choice (40%) and poor condition of the patient (29%).ConclusionsThe proportion of patients with advanced epithelial ovarian cancer not receiving cancer-directed treatment has increased in the last decade in the Netherlands. Patient’s choice was the main reason for the decision to undergo no cancer-directed treatment, which indicates patient involvement in the decision-making process. The second most common reason for no cancer-directed treatment was poor condition of the patient, which might indicate careful selection of patients for treatment. Decision-making regarding treatment is well-considered, but more insight is needed, especially from the patient's perspective.

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