New test could make carrier screening more accessible

Levenson, Deborah

doi:10.1002/ajmg.a.33290

Cited by 8 publications

(8 citation statements)

References 1 publication

(1 reference statement)

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“…As carrier screening becomes available for more conditions and becomes more affordable, it is likely that multi‐disease screening programmes will become much more common. Notably, a company in the United States recently released a direct‐to‐consumer test that screens for 100 genetic conditions at a cost of $349 per test (26). It is likely that truly informed consent may not be possible for many potential participants and that the focus of education and counselling will need to be directed to carriers identified.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of a multi‐disease carrier screening programme in Ashkenazi Jewish high schools

et al. 2010

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A screening programme for Tay Sachs disease (TSD) carrier status was introduced in high schools in Victoria, Australia in 1997, and was expanded to screen for six other genetic conditions common in the Ashkenazi Jewish population in 2008. The aim of this study was to evaluate the current programme and compare it with an evaluation of the programme when screening was offered for TSD alone. All students from Jewish high schools in Melbourne who offered the programme in 2009 were invited to participate in the study. A purpose-designed questionnaire explored the following domains: knowledge (disease and genetics), reasons for screening, anxiety, and predicted negative feelings if found to be a carrier. Two hundred and seventy-three students were offered screening, and 272 (99.6%) completed the questionnaire. Only two students chose not to have screening. Two hundred and seventy-one students were in the penultimate year of high school (99.6%) and 222 were of Ashkenazi Jewish descent (82.5%). The main reasons for choosing screening were the desire to know carrier status and convenience. Knowledge level decreased and negative feelings increased in the current cohort compared to that when screening was offered for TSD alone. We conclude that the current programme is efficient, although increasing the number of conditions resulted in a decrease in knowledge and increase in predicted negative feelings if found to be a carrier of one of the conditions. This has implications for multi-disease screening programmes that will increase in frequency as more conditions can be screened for and costs diminish.

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Section: Discussionmentioning

confidence: 99%

Evaluation of a multi‐disease carrier screening programme in Ashkenazi Jewish high schools

et al. 2010

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“…28,29 These molecular screening panels are for autosomal recessive and X-linked disorders including skeletal dysplasias such as diastrophic dysplasia; however it is important to note that many genes and mutations that can cause skeletal dysplasias are presently not included in these panels. Usually if one parent screens positive for a disorder, then the other parent is screened, determining a baseline risk for a disorder.…”

Section: Prenatal Diagnosis Of Osteochondrodyslasiasmentioning

confidence: 99%

Skeletal Dysplasias

Krakow¹

2015

Clinics in Perinatology

122

101

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Synoposis The skeletal dysplasias are a group of more than 450 heritable disorders of bone. They frequently present in the newborn period with disproportion, radiographic abnormalities, and occasionally other organ system abnormalities. For improved clinical care it is important to determine a precise diagnosis to aid in management, familial recurrence and identify those disorders highly associated with mortality. Long-term management of these disorders is predicated on an understanding of the associated skeletal system abnormalities and these children are best served by a team approach to health care surveillance.

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“…Many commercial companies are now offering expanded carrier screening panels for ethnicity based and general population carrier screening, but recommendations from the professional organizations to which we subscribe have not kept pace with their developments. Counsyl, whose mission is to "scale up the Jewish community's successful campaign of universal carrier screening for Tay-Sachs," has been offering a carrier panel of over 100 recessive diseases since 2008 (Levenson 2010;Srinivasan et al 2010), and the cost of panel testing is often lower than carrier testing for CF alone. Such panels have created a new debate over how they should be utilized responsibly and effectively.…”

Section: Expanded Carrier Screeningmentioning

confidence: 99%