Risk Reversals in Predictive Testing for Huntington Disease

Almqvist, E; Adam, Shelin; Bloch, Maurice; Fuller, Anne; Welch, Philip D.; Eisenberg, Debbie; Whelan, Don; Macgregor, David; Meschino, Wendy S.; Hayden, Michael R.

doi:10.1086/514873

Cited by 36 publications

(15 citation statements)

References 22 publications

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“…In the older literature about half of the articles that mentioned a solution suggested involving patients in the process of recontacting. 1,7,10,12,18,21,23,25 Patients could contribute by, for example, contacting the department regularly to inquire about new genetic information, keep the genetics department up to date regarding address and personal information, and checking for new genetic developments on websites. Fitzpatrick et al 12 suggested including informing the media, support groups, and other health professionals in the recontacting process.…”

Section: Recontact In Clinical Genetics: Practical Barriers and Solutmentioning

confidence: 99%

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

Otten

Plantinga

Birnie

et al. 2015

Genetics in Medicine

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Purpose: With rapid advances in genetic technologies, new genetic information becomes available much faster today than just a few years ago. This has raised questions about whether clinicians have a duty to recontact eligible patients when new genetic information becomes available and, if such duties exist, how they might be implemented in practice. Methods:We report the results of a systematic literature search on the ethical, legal, social (including psychological), and practical issues involved in recontacting former patients who received genetic services. We identified 1,428 articles, of which 61 are covered in this review. results:The empirical evidence available indicates that most but not all patients value being recontacted. A minority of (older) articles conclude that recontacting should be a legal duty. Most authors consider recontacting to be ethically desirable but practically unfeasible. Various solutions to overcome these practical barriers have been proposed, involving efforts of laboratories, clinicians, and patients.conclusion: To advance the discussion on implementing recontacting in clinical genetics, we suggest focusing on the question of in what situations recontacting might be regarded as good standard of care. To this end, reaching a professional consensus, obtaining more extensive empirical evidence, and developing professional guidelines are important.Genet Med advance online publication 11 December 2014

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Section: Recontact In Clinical Genetics: Practical Barriers and Solutmentioning

confidence: 99%

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

Otten

Plantinga

Birnie

et al. 2015

Genetics in Medicine

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“…The low percentage of those being retested may relate to the percentage error of the linkage test, which affords a small window of hope for error in those whose test results show that they are at increased risk. Conversely, people who have had a linkage result showing decreased risk may not wish to jeopardize their status by discovering a risk reversal with a more accurate test (33).…”

Section: Predictive Testingmentioning

confidence: 99%

Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000

et al. 2003

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Predictive and pre-natal testing for Huntington's Disease (HD) has been available since 1987. Initially this was offered by linkage analysis, which was surpassed by the advent of the direct mutation test for HD in 1993. Direct mutation analysis provided an accurate test that not only enhanced predictive and pre-natal testing, but also permitted the diagnostic testing of symptomatic individuals. The objective of this study was to investigate the uptake, utilization, and outcome of predictive, pre-natal and diagnostic testing in Canada from 1987 to April 1, 2000. A retrospective design was used; all Canadian medical genetics centres and their affiliated laboratories offering genetic testing for HD were invited to participate. A total of 15 of 22 centres (68.2%), currently offering or ever having offered genetic testing for HD, responded, providing data on test results, demographics, and clinical history. A total of 1061 predictive tests, 15 pre-natal tests, and 626 diagnostic tests were performed. The uptake for predictive testing was approximately 18% of the estimated at-risk Canadian population, ranging from 12.5% in the Maritimes to 20.7% in British Columbia. There appears to have been a decline in the rate of testing in recent years. Of the predictive tests, 45.0% of individuals were found to have an increased risk, and a preponderance of females (60.2%) sought testing. A greater proportion of those at < or = 25% risk sought predictive testing once direct CAG mutation analysis had become available (10.9% after mutation analysis vs 4.7% before mutation analysis, p = 0.0077). Very few pre-natal tests were requested. Of the 15 pre-natal tests, 12 had an increased risk, resulting in termination of pregnancy in all but one. Diagnostic testing identified 68.5% of individuals to be positive by mutation analysis, while 31.5% of those with HD-like symptoms were not found to have the HD mutation. The positive diagnostic tests included 24.5% of individuals with no known prior family history of HD.

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“…A total of 107 centers from 20 countries provided data on 5,781 tested individuals. Most catastrophic events occur within 1 year after the test result: 5 individuals committed suicide and 16 attempted suicide [Almqvist and Bloch, 1996]. However, to designate predictive testing for HD as a ''success story'' [Bundey, 1997] is an underestimation of the complicated psychological process that the majority of tested individuals, their partners, and their relatives have to go through, as was emphasized by workers from the first hour [Evers-Kiebooms, et al, 1997;Mlynik-Szmid, 1997;Tibben et al, 1997a].…”

Section: Predictive Testing For Huntington Disease Versus Predictive mentioning

confidence: 99%

Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: Comparing questionnaire results with in-depth interviews

Tibben

et al. 1998

Am. J. Med. Genet.

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In 50% risk carriers for Huntington disease (n = 41), hereditary cerebral hemorrhage with amyloidosis Dutch-type (n = 9) familial adenomatous polyposis coli (n = 45) and hereditary breast and ovarian cancer (n = 24), pretest intrusion and avoidance (Impact of Event Scale), anxiety and depression (Hospital Anxiety and Depression Scale), feelings of hopelessness (Beck Hopelessness Scale), and psychological complaints (Symptom Checklist) were assessed to determine their psychological well-being. The manner of discussing the genetic disorder, the test, and its implications during a semistructured interview (reflecting on one's emotions without getting carried away or dismissing or minimizing the subject) was judged in terms of coherence. Participants at risk for neurodegenerative disorders had higher anxiety and depression scores and more psychological complaints than did those at risk for cancer syndromes. Those reporting high intrusion/high avoidance had higher anxiety and depression scores and more psychological complaints than did those reporting low intrusion/low avoidance. However, the scoring of the interview showed that participants reporting high intrusion/high avoidance were more reflective about their emotions without getting carried away or dismissing the subject (e.g., more coherent) than those reporting low intrusion/low avoidance. This result suggests that participants with higher stress scores may be actively dealing with the emotional implications of the test, whereas those with low stress scores may (as yet) be unable to face these implications. It is important to identify the strategy of coping with threat to provide suitable counseling and necessary guidance. However, long-term follow-up is needed to learn the consequences of a denial coping strategy for those participating in a genetic testing program.

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Risk Reversals in Predictive Testing for Huntington Disease

Cited by 36 publications

References 22 publications

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000

Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: Comparing questionnaire results with in-depth interviews

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