Active cascade testing for carriers of cystic fibrosis gene

Super, Maurice; Schwarz, Martin; Malone, Geraldine; Roberts, Theresa L.; Haworth, Andrea; Dermody, Gordana

doi:10.1136/bmj.308.6942.1462

Cited by 93 publications

(64 citation statements)

References 22 publications

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“…Positive attitudes to carrier testing, and high uptake when an 'active' approach to offering testing, as shown in the literature, suggests that non-parent relatives do want the opportunity to make a decision about carrier testing for CF for themselves, [6][7][8][9]25,26 but in our study more than 88% of non-parent relatives are not tested.…”

Section: N¼716mentioning

confidence: 76%

“…4,5 Several studies have explored issues associated with offering carrier testing to people who have a family history of CF. [6][7][8][9][10] These studies that have been undertaken in research settings involved intervention from the investigators, such as directly contacting relatives, or giving patients resources to communicate with family members after a genetic counselling appointment. The extent to which non-parent relatives access carrier testing in the context of a clinical setting, rather than in response to a specific research study-driven offer of testing, has not previously been explored.…”

Section: Introductionmentioning

confidence: 99%

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Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

et al. 2010

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Newborn screening (NBS) for cystic fibrosis (CF) provides the opportunity for cascade carrier testing of relatives. Uptake of testing by adult non-parent relatives of children diagnosed with CF through NBS has not been previously described, and this study describes uptake by both parents and adult non-parent relatives in Victoria, Australia. Pedigrees were taken from parents of children who were born in 2000-2004 and diagnosed with CF. A total of 40 families were eligible for the study and 30 (75%) were recruited. In all, 716 non-parent relatives were identified from the pedigrees as eligible for carrier testing, and 82 (adjusted uptake percentage: 11.8%; 95% confidence interval 8.0-15.7) have had carrier testing by March 2009. On average, 2.7 non-parent relatives per family had CF carrier testing after diagnosis through NBS. The odds of being tested were greater for females than males (adjusted odds ratio 1.61; 95% confidence interval 1.11-2.33; P¼0.01) and greater for those more closely related to the child with CF (adjusted odds ratio 5.17; 95% confidence interval 2.38-11.24; Po0.001). Most relatives who undergo testing are tested immediately after the baby's diagnosis; however, some testing is undertaken up to 8 years later. These results indicate that in a clinical setting, the diagnosis of a baby with CF by NBS does not lead to carrier testing for the majority of the baby's non-parent relatives. We suggest re-contact with parents to offer cascade carrier testing.

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Section: N¼716mentioning

confidence: 76%

Section: Introductionmentioning

confidence: 99%

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

et al. 2010

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“…28 However, if probands were to contact relatives, the quality of the information they receive could deteriorate. Patients do not have perfect recall of information provided to them during counselling, 34 and there are instances of incorrect information having being passed to family members.…”

Section: Increased Accuracy Of Informationmentioning

confidence: 99%

“…20,28 After a family tree has been drawn up in conjunction with the clinical team, probands invited participation from their relatives through passing on a booklet describing CF and the opportunity for testing. Cascade screening has been generally wellaccepted, with uptake greater than expected; on average 20 additional tests were performed per family.…”

Section: Cascade Screening For Other Conditionsmentioning

confidence: 99%

Cascade testing in familial hypercholesterolaemia: how should family members be contacted?

Newson

Humphries

2005

Eur J Hum Genet

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Cascade testing or screening provides an important mechanism for identifying people at risk of a genetic condition. For some autosomal dominant conditions, such as Familial Hpercholesterolaemia (FH), identifying relatives allows for significant health-affecting interventions to be administered, which can extend a person's life expectancy significantly. However, cascade screening is not without ethical implications. In this paper, we examine one ethically contentious aspect of cascade screening programmes, namely the alternative methods by which relatives of a proband can be contacted. Should the proband be responsible for contacting his or her family members, or should the screening programme contact family members directly? We argue that direct contact is an ethically justifiable method of contact tracing in cascade screening for FH. Not only has this method of contact already been utilised without adverse effects, an examination of the ethical arguments against it shows these are unsubstantiated. We describe several criteria which, if met, will allow an appropriate balance to be struck between maximising the efficiency of family tracing and respecting the interests of probands and their relatives.

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“…In a US study, relatives planning a pregnancy were more likely to have testing than those who were not when offered carrier testing. 15 That study describes a research setting in which an "active" approach was taken to offer carrier testing to relatives, which has been shown to increase testing uptake 15,18,19 compared with a more passive research approach 20 or uptake in a clinical setting. 8 Translation of active approaches into the clinical setting is unlikely to be possible, primarily due to the extra resources required.…”

Section: Genetics In Medicinementioning

confidence: 99%

Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing

McClaren

Aitken

Massie

et al. 2013

Genetics in Medicine

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Original research article INTRODUCTIONNewborn screening (NBS) for cystic fibrosis (CF) has increasingly been adopted by many countries worldwide, including Australia and New Zealand (since 1981), the United Kingdom (2007), a number of other countries and regions in Europe, and the United States. [1][2][3] The birth prevalence of CF is ~1 in 3,500 for northern European populations, 4 with a carrier frequency of 1 in 25, making it the most common severe recessive condition in children. In the state of Victoria, Australia, CF has been part of NBS since 1989, using immunoreactive trypsinogen as the screening analyte, and from 1991, using CF transmembrane conductance regulator gene mutation analysis for elevated immunoreactive trypsinogen results. 5A supplement edition of Genetics in Medicine (December 2010) highlighted the need for establishing systems for shortand longer-term follow-up of children who receive positive screening results from NBS. Long-term follow-up of children diagnosed with CF is generally achievable due to their ongoing treatment and management. 6 One important area that has been poorly studied is the impact of family cascade testing following a child's diagnosis of CF through NBS. "Cascade testing" is the term often used to describe genetic testing of relatives of a person diagnosed with a genetic condition or identified as a genetic carrier. The "cascade" refers to the process of testing an individual for the familial mutation(s) and then, in the event of a positive result, descendants are tested; descendants of an individual who receives a negative result are not tested. The diagnosis of a child with CF inherently means relatives are at increased risk of being CF carriers (e.g., aunts and uncles of a child with CF have a 50% risk). Carrier relatives may have their partners tested. When both partners are identified to be carriers, knowledge of carrier status provides relatives with information that may be used to make reproductive decisions, which might include having no (more) children, prenatal diagnosis, preimplantation genetic diagnosis, using donor gametes, and adoption.We have previously investigated cascade carrier testing of relatives of children diagnosed with CF through NBS in Victoria, Australia. Parents are counseled regarding the familial implications at the time of their child's diagnosis and are provided with a letter to give to relatives to assist them with communicating the genetic information.7 Even though carrier testing was free of charge to relatives who wished to receive testing, only 11.8% of relatives accessed carrier testing. 8 The aim of this study was to explore the reasons why relatives access or do not access carrier testing following a child's diagnosis of CF by NBS.Purpose: Newborn screening for cystic fibrosis is increasingly available, but cascade testing following the diagnosis in a child has received little attention. We previously reported low levels of cascade testing over time, and this study investigated motivators as well as barriers to testing. Methods:P...

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Active cascade testing for carriers of cystic fibrosis gene

Cited by 93 publications

References 22 publications

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

Cascade testing in familial hypercholesterolaemia: how should family members be contacted?

Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing

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