Early adoption of BRCA1/2 testing: Who and why

Armstrong, Katrina; Weiner, Janet; Weber, Barbara; Asch, David A.

doi:10.1097/01.gim.0000056829.76915.2a

Cited by 46 publications

(39 citation statements)

References 24 publications

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“…These findings are compatible with hypotheses generated by the diffusion of innovation theory. 19 Similar to other studies, 19,20 most 'early adopters' in this study were more likely to have a college degree or higher. ClinSeq participants share motivations with individuals who enroll in research in general, as well as with those who typically come forth for genetic studies and new genetic tests based on their family or personal history of disease.…”

Section: Discussionsupporting

confidence: 76%

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

et al. 2011

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The promise of personalized medicine depends on the ability to integrate genetic sequencing information into disease risk assessment for individuals. As genomic sequencing technology enters the realm of clinical care, its scale necessitates answers to key social and behavioral research questions about the complexities of understanding, communicating, and ultimately using sequence information to improve health. Our study captured the motivations and expectations of research participants who consented to participate in a research protocol, ClinSeq, which offers to return a subset of the data generated through high-throughput sequencing. We present findings from an exploratory study of 322 participants, most of whom identified themselves as white, non-Hispanic, and coming from higher socio-economic groups. Participants aged 45-65 years answered open-ended questions about the reasons they consented to ClinSeq and about what they anticipated would come of genomic sequencing. Two main reasons for participating were as follows: a conviction to altruism in promoting research, and a desire to learn more about genetic factors that contribute to one's own health risk. Overall, participants expected genomic research to help improve understanding of disease causes and treatments. Our findings offer a first glimpse into the motivations and expectations of individuals seeking their own genomic information, and provide initial insights into the value these early adopters of technology place on information generated by high-throughput sequencing studies. European Journal of Human Genetics (2011Genetics ( ) 19, 1213Genetics ( -1217 doi:10.1038/ejhg.2011; published online 6 July 2011Keywords: whole-genome sequencing; personalized medicine; early adopters INTRODUCTION Genomics has already revolutionized the biological sciences, and the future application of genomics to health care has the potential to improve prevention, diagnosis, and treatment of disease by refining individual risk in the clinical setting. However, this potential can only be realized through translational and clinical research studies to establish the relationship of disease risk to genomic variants derived from sequencing data. These studies will necessitate the enrollment of thousands of clinical research participants, and thus methods and approaches need to be developed to interact and communicate with participants regarding clinical genomics. As well, these clinical genomics studies will serve as the foundation for the development of approaches to health-care providers' interactions with patients undergoing sequencing in the clinic and hospital wards of the future.High-throughput genomic sequencing can elucidate an enormous range of sequence and copy number variations for a given individual. A typical whole-genome sequence determination yields on the order of 4 000 000 sequence variations that differ from the current human reference sequence. While most are benign or of unknown consequence, some are associated with a significant increased risk of disease for ...

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Section: Discussionsupporting

confidence: 76%

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

et al. 2011

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“…We measured cancer worry with a single item asking women how often they worried about getting breast cancer in the past month. Responses were made on a 4-point Likert scale (‘not at all or rarely’ to ‘a lot’) [26]. …”

Section: Methodsmentioning

confidence: 99%

Interest in Genetic Testing for Modest Changes in Breast Cancer Risk: Implications for SNP Testing

Graves

Peshkin

Luta

et al. 2011

Public Health Genomics

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Background: Advances in genomics may eventually lead to ‘personalized genetic medicine,’ yet the clinical utility of predictive testing for modest changes in risk is unclear. We explored interest in genetic testing for genes related to modest changes in breast cancer risk in women at moderate to high risk for breast cancer. Methods: Women (n = 105) with a negative breast biopsy and ≧1 relative with breast or ovarian cancer completed telephone surveys. We measured demographic and psychosocial variables and, following presentation of hypothetical scenarios of genetic tests for lower-penetrance breast cancer gene mutations, assessed interest in willingness to pay for and comprehension of test results. We used logistic regression models with generalized estimating equations to evaluate combinations of risk level, cost and behavioral modifiers. Results: Many women (77%) reported ‘definite’ interest in genetic testing, with greater interest in tests that conveyed more risk and cost less. Behavioral modifiers of risk (taking a vitamin; diet/exercise), having a regular physician, greater perceived benefits of genetic testing, and greater cancer worry also influenced interest. Most participants (63%) did not understand relative vs. absolute risk. Women with less understanding reported more cancer worry and greater willingness to pay for testing. Conclusion: Interest in genetic testing for mutations related to modest changes in risk was high, modified by both test and psychosocial factors. Findings highlight the need for education about benefits and risks of testing for mutations that convey modest changes in risk, particularly given the current lack of clinical validity/utility and availability of direct-to-consumer genetic testing.

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“…We have not attempted to compare results in this paper with those from centres offering mutation screening to unaffected relatives where there is no known family mutation, as the denominator for attendance is not known, and because of the uncertainty of a negative test result. 24 The trends indicated above reflect the current experience, with the range of surveillance options that are open to today's patient. These may change and therefore increase or decrease levels of uptake particularly in women.…”

Section: Authormentioning

confidence: 99%

BRCA1/2 predictive testing: a study of uptake in two centres

et al. 2004

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Differences in reported uptake of genetic testing for mutations in BRCA1 and BRCA2 can largely be accounted for by different methodologies and by studying research vs nonresearch families. In our joint study of 75 nonresearch families from two UK centres in which at least 3 years had elapsed since the initial proband had been informed of the availability of testing, only 45 and 34% of eligible individuals from Manchester and London, respectively, had come forward for counselling. Final uptake rates using a nonproactive approach were 53 and 29% for women and 11-12% for men, but the figure among those attending clinic was 73 and 62%, respectively. Unlike previous studies, we did not find that uptake had stabilised after a year with 25% of those being tested more than 2 years after the family was informed, and several delaying a considerable time between genetics appointments. We believe that the particularly low uptake even of counselling in men may need to be addressed by improving family communication or providing information sheets for family members to disseminate.

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Early adoption of BRCA1/2 testing: Who and why

Cited by 46 publications

References 24 publications

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

Interest in Genetic Testing for Modest Changes in Breast Cancer Risk: Implications for SNP Testing

BRCA1/2 predictive testing: a study of uptake in two centres

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