Is no news good news? Inconclusive genetic test results in BRCA1 and BRCA2 from patients and professionals' perspectives

<p>Abstract</p> <p>Background</p> <p>Women from families with a high risk of breast or ovarian cancer in which genetic testing for mutations in the <it>BRCA1/2 </it>genes is inconclusive are a vulnerable and understudied group. Furthermore, there are no studies of the professional specialists who treat them - geneticists, genetic counsellors/nurses, oncologists, gynaecologists and breast surgeons.</p> <p>Methods</p> <p>We conducted a small qualitative study that investigated women who had developed breast cancer under the age of 45 and who had an inconclusive <it>BRCA1/2 </it>genetic diagnostic test (where no mutations or unclassified variants were identified). We arranged three focus groups for affected women and their close female relatives - 13 women took part. We also interviewed 12 health professionals who were involved in the care of these women.</p> <p>Results</p> <p>The majority of the women had a good grasp of the meaning of their own or a family member's inconclusive result, but a few indicated some misunderstanding. Most of the women in this study underwent the test for the benefit of others in the family and none mentioned that they were having the test purely for themselves. A difficult issue for sisters of affected women was whether or not to undertake prophylactic breast surgery. The professionals were sensitive to the difficulties in explaining an inconclusive result. Some felt frustrated that technology had not as yet provided them with a better tool for prediction of risk.</p> <p>Conclusions</p> <p>Some of the women were left with the dilemma of what decision to make regarding medical management of their cancer risk. For the most part, the professionals believed that the women should be supported in whatever management decisions they considered best, provided these decisions were based on a complete and accurate understanding of the genetic test that had taken place in the family.</p

Are Good Intentions Good Enough?: Informed Consent Without Trained Interpreters

OBJECTIVE: To examine the informed consent process when trained language interpreters are unavailable. BACKGROUND: Ensuring sufficient patient understanding for informed consent is especially challenging for patients with Limited English Proficiency (LEP). While US law requires provision of competent translation for LEP patients, such services are commonly unavailable. DESIGN AND PARTICIPANTS: Qualitative data was collected in 8 prenatal genetics clinics in Texas, including interviews and observations with 16 clinicians, and 30 Latina patients. Using content analysis techniques, we examined whether the basic criteria for informed consent (voluntariness, discussion of alternatives, adequate information, and competence) were evident for each of these patients, contrasting LEP patients with patients not needing an interpreter. We present case examples of difficulties related to each of these criteria, and compare informed consent scores for consultations requiring interpretation and those which did not. RESULTS: We describe multiple communication problems related to the use of untrained interpreters, or reliance on clinicians’ own limited Spanish. These LEP patients appear to be consistently disadvantaged in each of the criteria we examined, and informed consent scores were notably lower for consultations which occurred across a language barrier. CONCLUSIONS: In the absence of adequate Spanish interpretation, it was uncertain whether these LEP patients were provided the quality and content of information needed to assure that they are genuinely informed. We offer some low-cost practice suggestions that might mitigate these problems, and improve the quality of language interpretation, which is essential to assuring informed choice in health care for LEP patients

Challenges in managing genetic cancer risk: a long-term qualitative study of unaffected women carrying BRCA1/BRCA2 mutations.

PURPOSE: Women carrying BRCA1/BRCA2 germ-line mutations have an increased risk of developing breast/ovarian cancer. To minimize this risk, international guidelines recommend lifelong surveillance and preventive measures. This study explores the challenges that unaffected women genetically predisposed to breast/ovarian cancer face in managing their risk over time and the psychosocial processes behind these challenges. METHODS: Between 2011 and 2013, biographical qualitative interviews were conducted in Switzerland with 32 unaffected French- and Italian-speaking women carrying BRCA1/BRCA2 mutations. Their mutation status had been known for at least 3 years (mean, 6 years). Data were analyzed through constant comparative analysis using software for qualitative analysis. RESULTS: From the time these women received their positive genetic test results, they were encouraged to follow medical guidelines. Meanwhile, their adherence to these guidelines was constantly questioned by their social and medical environments. As a result of these contradictory pressures, BRCA1/BRCA2 mutation carriers experienced a sense of disorientation about the most appropriate way of dealing with genetic risk. CONCLUSION: Given the contradictory attitudes of health-care professionals in caring for unaffected BRCA1/BRCA2 mutation carriers, there is an urgent need to educate physicians in dealing with genetically at-risk women and to promote a shared representation of this condition among them.Genet Med 17 9, 726-732

ReGAE 2: primary eye care service utilisation and glaucoma: some viewpoints from African-Caribbeans in Birmingham UK

Metadata onlyInvestigations into glaucoma awareness have drawn on informed, clinic-based populations. The paper reports a section of findings from a larger study that aimed to elicit the perceptions of those potentially less informed in community settings.MethodsA qualitative investigation used face-to-face interviews and focus group discussions with 48 African Caribbean participants outside the hospital eye-service. Interview data were transcribed and coded using manual and computer-aided methods. Inferences and interpretations were corroborated by discussion with expert advisors and community members not directly involved in the study.ResultsPositive attitudes to health promotion existed, but 'eye health' did not appear to be integral to individuals' health schemas. The capacity for primary eye care to enhance glaucoma knowledge appeared under utilised and inconsistent across modes of service delivery and was undermined by perceived conflicts of interest.ConclusionsEnhancing reciprocal understanding between service users and ophthalmic practitioners in primary care is central to developing flexible, responsive local eye-care services. The study suggested useful foci for cultural self-reflection and self-awareness on the part of health professionals themselves, in relation to glaucoma detection. Areas for further research are identified.Eye advance online publication, 11 August 2006; doi:10.1038/sj.eye.6702461