The complexities of predictive genetic testing

Evans, James P.; Skrzynia, Cécile; Burke, Wylie

doi:10.1136/bmj.322.7293.1052

Cited by 193 publications

(154 citation statements)

References 27 publications

(24 reference statements)

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“…This pattern reflects the current state of knowledge: family history is known to be a strong risk factor but currently available genetic testing has low clinical utility because it imperfectly predicts disease and does not usually suggest distinct treatment or preventive measures. 7 In contrast, families with conditions such as hereditary cancer susceptibility, for which genetic tests that could change preventive strategies are available, were more frequently referred to geneticists. Responses to this survey suggest a highly relevant focus for geneticists and genetic epidemiologists to contribute to professional education for primary care clinicians.…”

Section: Discussionmentioning

confidence: 99%

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Clinical genetics issues encountered by family physicians

Acheson

Stange

Zyzanski

2005

Genetics in Medicine

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Purpose: To describe the genetics-related clinical issues encountered by family physicians, and the medical problems they referred to genetics consultants. Methods: Questionnaires were mailed to a nationwide, random sample of 498 practicing family physicians, asking how many times in the past year they discussed genetic information about 19 familial or genetic conditions with patients and what proportion of the families with each genetic condition were referred for genetics consultation. Factor analysis was used to group the conditions. Results: The response rate was 38% (n ϭ 190). Respondents were similar to nonrespondents except that more were women. Most family physicians reported discussing the genetics of common cancers, cardiovascular disease, and Alzheimer's disease with two or more patients in the past year. Thirteen percent had referred families for genetics assessment of breast-ovarian cancer but only two made genetics referrals for cardiovascular disease or dementia. 25% to 50% of family physicians had addressed genetic issues in at least one family with hemoglobinopathy, a blood clotting disorder, hemochromatosis, mental illness, vision loss or deafness, chromosome abnormality, infertility or pregnancy loss, congenital anomalies, mental retardation, and neurofibromatosis. Most cases were not referred to geneticists. Of respondents, 23% said that genetics consultation is very difficult to obtain or unavailable and 18% listed ethical and social dilemmas related to pursuing genetic diagnosis. Conclusion: Nationwide, family physicians address a variety of genetics issues with patients, most frequently consulting geneticists for perinatal conditions and familial cancers. Access to genetics consultation is more difficult in rural areas. These data may be used in organizing genetics services and in planning professional education programs for primary care clinicians. Genet Med 2005:7(7):501-508.

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Section: Discussionmentioning

confidence: 99%

“…Barriers to access, low probability of a Mendelian disorder, and lack of evidence about the usefulness of genetic tests for care of some common conditions would limit the likelihood of referral to a geneticist. 7,12 …”

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confidence: 99%

Clinical genetics issues encountered by family physicians

Acheson

Stange

Zyzanski

2005

Genetics in Medicine

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“…1 The terms 'presymptomatic' and 'predictive' genetic testing refer to the possibility of detecting a genetic mutation that causes a particular condition before the presentation of symptoms. The first term generally refers to those diseases in which a positive test result will inevitably lead to the development of the disease later in life (eg, Huntington disease (HD)); the second term refers to a broader range of diseases in which the risk for a disorder is increased but without necessarily implying any degree of certainty (eg, hereditary breast and ovarian cancer (HBOC)).…”

Section: Introductionmentioning

confidence: 99%

Impact of presymptomatic genetic testing on young adults: a systematic review

et al. 2015

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Presymptomatic and predictive genetic testing should involve a considered choice, which is particularly true when testing is undertaken in early adulthood. Young adults are at a key life stage as they may be developing a career, forming partnerships and potentially becoming parents: presymptomatic testing may affect many facets of their future lives. The aim of this integrative systematic review was to assess factors that influence young adults' or adolescents' choices to have a presymptomatic genetic test and the emotional impact of those choices. Peer-reviewed papers published between January 1993 and December 2014 were searched using eight databases. Of 3373 studies identified, 29 were reviewed in full text: 11 met the inclusion criteria. Thematic analysis was used to identify five major themes: period befeore testing, experience of genetic counselling, parental involvement in decision-making, impact of test result communication, and living with genetic risk. Many participants grew up with little or no information concerning their genetic risk. The experience of genetic counselling was either reported as an opportunity for discussing problems or associated with feelings of disempowerment. Emotional outcomes of disclosure did not directly correlate with test results: some mutation carriers were relieved to know their status, however, the knowledge they may have passed on the mutation to their children was a common concern. Parents appeared to have exerted pressure on their children during the decision-making process about testing and risk reduction surgery. Health professionals should take into account all these issues to effectively assist young adults in making decisions about presymptomatic genetic testing.

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“…It has been seen that large-scale immigration among and into European countries may place new demands on genetic services as there will be new genetic conditions and sociocultural issues surrounding counselling, treatment, and prevention. 1,8 In addition, susceptibility testing for multifactorial diseases has been estimated to create potentially the biggest future demand for genetic testing services; 8 although there have been critical visions of its importance, 17 there have also been even more expectant perspectives 19,20 towards prediction in complex diseases.…”

Section: Discussionmentioning

confidence: 99%