Incidence and predictors of positive and negative effects of BRCA1/2 genetic testing on familial relationships: a 3-year follow-up study

Lapointe, Julie; Bouchard, Karine; Patenaude, Andrea Farkas; Maunsell, Elizabeth; Simard, Jacques; Dorval, Michel

doi:10.1038/gim.0b013e3182310a7f

Cited by 9 publications

(6 citation statements)

References 55 publications

(67 reference statements)

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“…The diversity of opinion in our study regarding testing relatives reflects ethical dilemmas concerning the duty to inform relatives and the patient's right to privacy . The physicians in our sample tended to assess the specific genetic findings, medical risk, and implications for reproductive decisions in the context of the personal preferences and family relationships of the individuals tested, suggesting a complex decision‐making process that appears consistent with a shared decision model .…”

Section: Discussionmentioning

confidence: 88%

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

et al. 2013

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Chromosomal microarray analysis (CMA) has improved the diagnostic rate of genomic disorders in pediatric populations, but can produce uncertain and unexpected findings. This paper explores clinicians’ perspectives and identifies challenges in effectively interpreting results and communicating with families about CMA. Responses to an online survey were obtained from 40 clinicians who had ordered CMA. Content included practice characteristics and perceptions, and queries about a hypothetical case involving uncertain and incidental findings. Data were analyzed using non-parametric statistical tests. Clinicians’ comfort levels differed significantly for explaining uncertain, abnormal, and normal CMA results, with lowest levels for uncertain results. Despite clinical guidelines recommending informed consent, many clinicians did not consider it pertinent to discuss the potential for CMA to reveal information concerning biological parentage or predisposition to late-onset disease, in a hypothetical case. Many non-genetics professionals ordering CMA did not feel equipped to interpret the results for patients, and articulated needs for education and access to genetics professionals. This exploratory study highlights key challenges in the practice of genomic medicine, and identifies needs for education, disseminated practice guidelines, and access to genetics professionals, especially when dealing with uncertain or unexpected findings.

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Section: Discussionmentioning

confidence: 88%

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

et al. 2013

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“…51–53 Empirical evidence that such harms are ever realized, much less on a scale that places large numbers of individuals at risk, is largely lacking and there is a small, but growing body of data suggesting that some adverse responses are attenuated over time or of less concern to individuals as predicted. 54–61 Moreover, it is unclear what is the principle that justifies encouraging strong genetic protectionism. Indeed, the potential for iatrogenic harms as health care providers learn to respond to ambiguous genetic results (e.g.…”

Section: Return Of Es/wgs Results Is Inevitable and Ethically Approprmentioning

confidence: 99%

Self-guided management of exome and whole-genome sequencing results: changing the results return model

Jamal

Tabor

et al. 2013

Genetics in Medicine

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Exome sequencing and whole-genome sequencing (ES/WGS) have become important tools for identifying alleles underlying both Mendelian and complex health-related traits. [1][2][3][4][5][6] The number of individuals who have undergone ES/WGS has steadily increased, and this trend is accelerating with the rapid commercial adaptation of sequencing for service that has made ES/ WGS available to nearly any researcher/clinician. In contrast to targeted approaches, ES/WGS simultaneously reveals virtually every allele that might confer risk or benefit to an individual's health and well-being. Therefore, in essentially every person, ES/WGS identifies alleles that are, or could be, of clinical utility-everyone is genetically "at risk. " Accordingly, the scope of individual health-related information generated by ES/WGS is unprecedented 7-10 and challenges many of the existing guidelines, policies, and professional norms about returning results from human genetic testing. [11][12][13] Bioethics research, albeit limited, and policy recommendations on return of individual ES/WGS (iES/WGS) results to date have focused mainly on issues such as which results should be returned in a clinical setting; 14-16 whether results should be returned at all in a research setting, and if so, which results; [17][18][19][20][21][22][23][24][25][26][27] and what to do about incidental findings in either setting. 8,[27][28][29][30][31][32][33][34][35][36] The spectrum of opinions that has emerged about these issues is broad with fairly polarized extremes. Some researchers have argued aggressively that only under few circumstances should research iES/WGS results be returned 12,37-39 and in clinical settings, a filter should be imposed on iES/WGS results so as to force return of results into the existing return of results model. 28 By contrast, others have suggested, often with attribution to the policies of direct-to-consumer genetic-testing companies, that all iES/WGS results should be made available to persons who are sequenced. 17 Although such normative research on these issues is of intrinsic value, it is likely to be of limited heuristic value now that ES/WGS is cheap, fast, and convenient; broadly accessible to researchers, primary-care providers, and the public alike; 40 and being applied in an increasing range of applications (e.g., noninvasive fetal genetic diagnosis and diagnostic evaluation, genomic research). [40][41][42] In other words, clinicians and researchers alike who elect to return results are facing right now the practical issue of how to return iES/WGS results.Most discussions about the ethics of return of iES/WGS results have been framed around a traditional model of clinical genetic testing in which results are discrete dichotomous variables, and return of results is conducted at a fixed point in time when a result(s) becomes available. The meaning of the result (i.e., the scientific and medical understanding of a variant) is also fixed at the point in time when the test/analysis was completed, and the scope of data is con...

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“…Mutations in germline mismatch repair genes (MLH1, MSH2, MSH6 and PMS2), associated with hereditary nonpolyposis colorectal cancer (Lynch syndrome), are implicated in an additional 2 % of ovarian cancer cases (Malander et al 2006). While hereditary risk assessment and genetic testing may have complex medical and psychological implications for patients (Broadstock et al 2000; Lapointe et al 2012; Meiser et al 2008), a priori risk stratification enables physicians to provide cost-effective tailored screening and prevention options. These options have demonstrated improved outcomes in women at substantial risk (20–25 %), including increased life expectancy for first degree relatives (Kwon et al 2010; Lancaster et al 2007).…”

Section: Introductionmentioning

confidence: 99%

Genetic Risk Assessment for Women with Epithelial Ovarian Cancer: Referral Patterns and Outcomes in a University Gynecologic Oncology Clinic

Petzel

Bensend

Leininger

et al. 2013

Journal of Genetic Counseling

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Little is known about genetic service utilization and ovarian cancer. We identified the frequency and outcome of genetic counseling referral, predictors of referral, and referral uptake for ovarian cancer patients. Using pathology reports, we identified all epithelial ovarian cancer patients seen in a university gynecologic oncology clinic (1/04–8/06). Electronic medical records (EMR) were used to document genetic service referral, time from diagnosis-to-referral, point-in-treatment at referral, personal/family cancer history, demographics, and genetic test results. Groups were compared using chi-squared and Fisher’s exact test for categorical variables and t-tests for continuous variables. The study population consisted of 376 women with ovarian cancer, 72 (19 %) of who were referred for genetic counseling/testing, primarily during surveillance. Of those referred, 42 (58 %) had personal or family genetic counseling and 34 (47 %) were ultimately tested or identified due to known family mutation. Family history and prior cancer were associated with referral. Family history, living in a larger community, higher-stage disease, and serous histology were associated with undergoing genetic counseling. Risk assessment identified 20 BRCA1/2 (5.3 %) and 1 HNPCC (0.3 %) mutation carriers. Based on recent estimates that 11.7–16.6 % of women with ovarian cancer are BRCA carriers and 2 % are HNPCC carriers, results suggest under-identification of carriers and under-utilization of genetic services by providers and patients. Interventions to increase medical providers’ referrals, even in a specialized oncology clinic, are necessary and may include innovations in educating these providers using web-based methods. Ease of referral by the introduction of an electronic cancer genetic referral form represents another new direction that may increase genetic risk assessment for high-risk women with ovarian cancer.

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Incidence and predictors of positive and negative effects of BRCA1/2 genetic testing on familial relationships: a 3-year follow-up study

Cited by 9 publications

References 55 publications

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

Self-guided management of exome and whole-genome sequencing results: changing the results return model

Genetic Risk Assessment for Women with Epithelial Ovarian Cancer: Referral Patterns and Outcomes in a University Gynecologic Oncology Clinic

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