Psychological consequences of predictive genetic testing: a systematic review

Abstract

The aim of this systematic literature review is to describe the psychological consequences of predictive genetic testing. Five databases were searched for studies using standardised outcome measures and statistical comparison of groups. Studies were selected and coded by two independent researchers. From 899 abstracts, 15 papers, describing 11 data sets, met the selection criteria for the review. The studies were of predictive genetic testing for Huntington's disease, hereditary breast and ovarian cancer, familial adenomatous polyposis and spinocerebellar ataxia. One involved children; the rest were of adults. None of the 15 papers reported increased distress (general and situational distress, anxiety and depression) in carriers or non-carriers at any point during the 12 months after testing. Both carriers and non-carriers showed decreased distress after testing; this was greater and more rapid amongst non-carriers. Test result (ie being a carrier or non-carrier) was rarely predictive of distress more than one month after testing (predictive in two of 14 analyses). Pre-test emotional state was predictive of subsequent distress in 14 of 27 analyses. There is a lack of informative studies in this field. The studies reviewed suggest that those undergoing predictive genetic testing do not experience adverse psychological consequences. However, the studies are of self-selected populations who have agreed to participate in psychological studies and have been followed up for no more than three years. Most research has been of testing for Huntington's Disease and included follow-up of no more than one year. The results suggest that testing protocols should include a pre-test assessment of emotional state so that post-test counselling can be targeted at those more distressed before testing. None of the studies experimentally manipulated the amount or type of counselling provided. The relationship between counselling and emotional outcome is therefore unclear and awaits empirical study.

Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life

“…The psychological impact on asymptomatic gene carriers has been extensively studied in familial cancer and neurological disease patients, and likewise no significant effect on emotional well-being or HR-QoL has been reported to date. [8][9][10] Adaptation to the shift in health status, as well as the advantages of a gain in knowledge and more accurate risk perception have all been suggested to account for this lack of psychological harm following a positive predictive result, and this is well described in the literature. 22,23 Of note, both proband groups (Groups 1 and 2) showed low HR-QoL scores, reflecting the fact they have clinical evidence of disease.…”

“…7 Predictive genetic testing of asymptomatic individuals at risk for disease can elicit a number of psychosocial responses, and understanding these has been an important research focus. [8][9][10] Fear and concern that predictive genetic testing will have a negative impact on psychological state is largely unfounded based on studies carried out in cancer and neurologic genetic diseases. [8][9][10] In cardiac genetics, the data are limited with only a small number of studies investigating the impact of genetic testing.…”

“…[8][9][10] Fear and concern that predictive genetic testing will have a negative impact on psychological state is largely unfounded based on studies carried out in cancer and neurologic genetic diseases. [8][9][10] In cardiac genetics, the data are limited with only a small number of studies investigating the impact of genetic testing. 1,[11][12][13][14] Understanding the psychosocial consequences of cardiac genetic testing can help to tailor pretest genetic counseling to best meet the needs of the patient.…”

Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia

“…Broadstock et al, 2000). Qualitative studies have, however, brought into relief significant differences in how genetic risks are emotionally experienced.…”

Understanding the impact of genetic testing for inherited retinal dystrophy

“…[8][9][10][11][12][13][14] Some studies have demonstrated positive attitudes and support for genetic testing in RD [15][16][17] but the potentially negative psychological consequences associated with predictive testing underline the need for counselling protocols to support families. 15 A strong motivating factor to seek genetic testing for RD has been reported to be the opportunity to access novel therapies 16 but, while such treatments remain unavailable for the vast majority of inherited retinal disorders, testing benefits are likely to centre on improving diagnosis, understanding of inheritance pattern and prognosis.…”