ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Carrier testing in children: exploration of genetic health professionals' practices in Australia.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders.Cold Spring Harbor perspectives in medicine · 2020Review
- "They Just Want to Know" - Genetic Health Professionals' Beliefs About Why Parents Want to Know their Child's Carrier Status.Journal of genetic counseling · 2017Article
- Predictive Genetic Testing of Children for Adult-Onset Conditions: Negotiating Requests with Parents.Journal of genetic counseling · 2017Article
- Why Do Parents Want to Know their Child's Carrier Status? A Qualitative Study.Journal of genetic counseling · 2016Article
- A qualitative study to explore how professionals in the United Kingdom make decisions to test children for a sickle cell carrier status.European journal of human genetics : EJHG · 2016Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeDespite genetic health professionals routinely providing carrier testing in adults, carrier testing in unaffected children after a sibling is diagnosed with a genetic condition remains controversial. The majority of international guidelines addressing genetic carrier testing in children recommend against providing this testing, yet little is known about current practice. This study aimed to determine whether genetic health professionals receive requests for carrier testing in unaffected children from parents of children with genetic conditions and whether they provide this testing.
methodsSemistructured interviews were conducted with 17 Australian genetic counselors and clinical geneticists and analyzed using inductive content analysis.
resultsThe genetic health professionals indicated that some parents do request carrier testing in their children, often after the diagnosis of a genetic condition in another child. Although all interviewees stated they initially advise against carrier testing, if the parents persist with their requests, then testing is occasionally provided. They indicated they consider factors such as the maturity of the child, anxiety of the parents, and potential medical benefit to make clinical judgments about when testing is appropriate, rather than relying solely on guidelines.
conclusionThis study sheds light on current practices in carrier testing for children, validating this as an area that still requires attention.
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