Carrier screening in preconception consultation in primary care

Metcalfe, Sylvia

doi:10.1007/s12687-011-0071-z

Cited by 40 publications

(44 citation statements)

References 119 publications

(133 reference statements)

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“…The study of Morgan et al (2004) confirmed that obstetrician gynecologists were indeed much more likely to offer screening to pregnant women than to nonpregnant patients. This observation applies not only to CF carrier screening but to carrier screening in general (Metcalfe 2012). In the study of Riskin-Mashiah and Auslander (2007), 94 % of the Israeli gynecologists recommended genetic carrier screening at the first prenatal visit; significantly fewer (62 %) recommended genetic carrier screening in the preconception period.…”

Section: Discussionmentioning

confidence: 97%

Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature

2012

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Recent technological developments in molecular genetics facilitate the large-scale detection of inherited genetic disorders and allow an increasing number of genetic conditions to be screened for (American College of Medical Genetics 2012). This technological evolution creates the background which makes reflection necessary about the desirability to offer community-based (preconception) carrier screening in the healthcare system. A positive attitude of potential providers is vital to the success of a screening program. Therefore, the objective of this article is to elaborate a review of the attitudes of healthcare professionals toward carrier screening. Examination of existing carrier screening programs could provide such information. The literature review will be focused on the attitudes toward carrier screening for cystic fibrosis (CF). The databases Pubmed and Web of Science, as well as the interface Google Scholar, were searched using the keywords for the period 1990-2011. Studies were selected if they were published in a peer-reviewed journal in English and described the attitudes of potential providers toward carrier screening. Eleven studies were retrieved describing the attitudes toward carrier screening for CF. In total, seven studies reported attitudes toward the best time for carrier screening; four studies described opinions toward the best setting to offer CF carrier screening; six studies investigated the willingness to be involved in a carrier screening program, and in total 11 articles reported the concerns about offering carrier screening. Ten papers described a general attitude toward carrier screening. We can conclude that health care providers state willingness to be involved in a carrier screening program, but there is need for appropriate education as well as adequate support given the time constraints already present in consultation. The prospect of an increasing number of genetic disorders for which screening becomes possible, and the potential increasing demand for such screening in the future calls for the need for further debate on the desirability of carrier screening and relevant questions such as the conditions screened, the providers involved, the information provision, and counseling.

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Section: Discussionmentioning

confidence: 97%

Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature

2012

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“…Incorporating carrier screening into preconception consultations or raising it during general practice consultations with women of childbearing age, for example, in association with their regular Pap smear, has a number of benefits in that screening would be offered at arguably the most appropriate stage of life (ideally before having their first child), and it would be offered in a very relevant healthcare setting (Metcalfe 2012;Temel et al 2015). However, it should be noted that while the timing and setting of preconception consultations may be ideal for offering carrier screening, it is important that carrier screening is perceived as separate to other health interventions currently offered (such as contraception and Pap smears) so that the introduction of carrier screening does not impact on the uptake of those other interventions.…”

Section: Discussionmentioning

confidence: 99%

“…There is now greater ability to screen for genetic carrier status, enabling individuals and couples to use this information for their reproductive decision-making and planning. Population-based genetic carrier screening has been offered through screening programs for individual single gene disorders such as cystic fibrosis, with screening typically offered in prenatal and preconception settings (Metcalfe 2012). Due to advances in technology, expanded carrier screening is now available involving screening for carrier status of a large number of inherited conditions simultaneously (Edwards et al 2015).…”

Section: Introductionmentioning

confidence: 99%

“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

et al. 2016

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This study aims to explore stakeholder views about offering population-based genetic carrier screening for fragile X syndrome. A qualitative study using interviews and focus groups with stakeholders was undertaken to allow for an indepth exploration of views and perceptions about practicalities of, and strategies for, offering carrier screening for fragile X syndrome to the general population in healthcare settings. A total of 188 stakeholders took part including healthcare providers (n = 81), relatives of people with fragile X syndrome (n = 29), and members of the general community (n = 78). The importance of raising community awareness about screening and providing appropriate support for carriers was emphasized. There was a preference for preconception carrier screening and for providing people with the opportunity to make an informed decision about screening. Primary care was highlighted as a setting which would ensure screening is accessible; however, challenges of offering screening in primary care were identified including time to discuss screening, knowledge about the test and possible outcomes, and the health professionals' approach to offering screening. With the increasing availability of genetic carrier tests, it is essential that research now focuses on evaluating approaches for the delivery of carrier screening programs. Primary healthcare is perceived as an appropriate setting through which to access the target population, and raising awareness is essential to making genetic screening more accessible to the general community.

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“…The reality is that carrier screening in prenatal settings is much more common. Several studies have attributed the failure of implementing preconception carrier screening in the healthcare system to difficulties in reaching couples before conception, lack of knowledge among healthcare providers, and insufficient resources (Metcalfe 2012).…”

Section: Future Directionsmentioning

confidence: 99%

Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches

2015

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Improvements in genetic testing technologies have led to the development of expanded carrier screening panels for the Ashkenazi Jewish population; however, there are major inconsistencies in current screening practices. A 2-year pilot program was launched in Atlanta in 2010 to promote and facilitate screening for 19 Jewish genetic diseases. We analyzed data from this program, including participant demographics and outreach efforts. This retrospective analysis is based on a de-identified dataset of 724 screenees. Data were obtained through medical chart review and questionnaires and included demographic information, screening results, response to outreach efforts, and follow-up behavior and preferences. We applied descriptive analysis, chi-square tests, and logistic regression to analyze the data and compare findings with published literature. The majority of participants indicated that they were not pregnant or did not have a partner who was pregnant were affiliated with Jewish organizations and reported 100 % AJ ancestry. Overall, carrier frequency was 1 in 3.9. Friends, rabbis, and family members were the most common influencers of the decision to receive screening. People who were older, had a history of pregnancy, and had been previously screened were more likely to educate others (all p<0.05). Analysis of this 2-year program indicated that people who are ready to have children or expand their families are more likely to get screened and encourage others to be screened. The most effective outreach efforts targeted influencers who then encouraged screening in the target population. Educating influencers and increasing overall awareness were the most effective outreach strategies.

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Carrier screening in preconception consultation in primary care

Cited by 40 publications

References 119 publications

Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature

Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature

“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches

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