Barriers to Genetic Testing Among Persons at Risk for Alpha-1 Antitrypsin Deficiency

Dickson, M. Ryan; Carter, Cindy L.; Carpenter, Matthew J.; McClure, Rebecca; McGee, Dawn; Zapka, Jane G.; Strange, Charlie

doi:10.1089/gte.2008.0028

Cited by 6 publications

(6 citation statements)

References 26 publications

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“…This finding is consistent with studies done in the context of testing for hereditary diseases, as a primary motivation for genetic testing is the potential for personal and family benefit [30,31,32,33]. Those who rated living a healthy lifestyle as very important were also more likely to rate actionability as useful, suggesting that individuals who perceive greater control of their health through preventive behaviors (e.g.…”

Section: Discussionsupporting

confidence: 88%

Public Perceptions of Disease Severity but Not Actionability Correlate with Interest in Receiving Genomic Results: Nonalignment with Current Trends in Practice

Graves

Sinicrope²,

McCormick³

et al. 2015

Public Health Genomics

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Purpose: Frameworks highlighting disease actionability and severity are evolving to address the need to organize results from genome-wide analyses. This approach represents a paradigm shift from consultations focused on one or more genes to multiple genes for multiple disorders. Empirical input from the general population is lacking, yet seems essential for understanding how to maximize patient autonomy and satisfaction in the decision-making process. Methods: We conducted a cross-sectional online survey with a representative sample of 900 US adults and assessed the participants' perceptions and attitudes toward disease actionability and severity, ranking hypothetical scenarios for these properties, and explored correlations with interest in learning test results. Results: Most respondents (>85%) rated actionability and severity as useful concepts; 46.6% indicated actionability alone would be adequate for decision making. Over half of them (53.8%) reported being very/extremely confident in their ability to score for actionability and severity. The participants' scoring of medical scenarios varied significantly between individuals. Scores for severity but not actionability were correlated with interest in learning genetic results. Subsets of the respondents projected wanting all results (30%) or no results (16%). The use of expert-created lists was acceptable to 43%. Conclusions: The respondents from the general population were confident in making their own decisions. The responses suggested different priorities than current expert-driven approaches. The emphasis on binning genes may be missing a complementary, simplifying approach of grouping patients based upon their all/none interest in genomic results. This study illuminates important differences between the general public and genetic experts.

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Section: Discussionsupporting

confidence: 88%

Public Perceptions of Disease Severity but Not Actionability Correlate with Interest in Receiving Genomic Results: Nonalignment with Current Trends in Practice

Graves

Sinicrope²,

McCormick³

et al. 2015

Public Health Genomics

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“…Research into the ACT platform has shown that patients value testing [4] including the parents of minors [5], engage with their physicians around test results, and change health behaviors after testing such a smoking [6]. Barriers to testing include fear of finger-sticks with a lancet at home [7], which could be offset by buccal swab collection of DNA.…”

Section: Charlie Strange MDmentioning

confidence: 99%

Detection of alpha-1 antitrypsin deficiency: the past, present and future

Brantly

Campos

Davis

et al. 2020

Orphanet J Rare Dis

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Background: Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development. Improving the detection rate for AATD is therefore a high priority for the Alpha-1 Foundation. A workshop was held on June 23, 2019 in Orlando, Florida during which stakeholders from the research, pharmaceutical, and patient communities focused on the topic of alpha-1 antitrypsin deficiency detection. Results: A variety of detection strategies have been explored in the past and new approaches are emerging as technology advances. Targeted detection includes patients with chronic obstructive pulmonary disease, unexplained chronic liver disease, and family members of affected individuals. Newborn screening, electronic medical record data mining, and direct-to-consumer testing remain options for future detection strategies. Conclusion: These meeting proceedings can serve as a basis for innovative approaches to the detection of alpha-1 antitrypsin deficiency.

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“…22 Losing this control can erode personal autonomy and the dignity and worth of individuals. 23 Regardless of the actual risk or magnitude of additional harms, some people will forgo participating in medical research and avoid seeking medical care 24 and genetic testing 25,26 in order to prevent unwanted disclosures of their medical and genetic information.…”

Section: Introductionmentioning

confidence: 99%

Public Opinion about the Importance of Privacy in Biobank Research

Kaufman

Murphy-Bollinger

Scott

et al. 2009

The American Journal of Human Genetics

258

255

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Concerns about privacy may deter people from participating in genetic research. Recruitment and retention of biobank participants requires understanding the nature and magnitude of these concerns. Potential participants in a proposed biobank were asked about their willingness to participate, their privacy concerns, informed consent, and data sharing. A representative survey of 4659 U.S. adults was conducted. Ninety percent of respondents would be concerned about privacy, 56% would be concerned about researchers having their information, and 37% would worry that study data could be used against them. However, 60% would participate in the biobank if asked. Nearly half (48%) would prefer to provide consent once for all research approved by an oversight panel, whereas 42% would prefer to provide consent for each project separately. Although 92% would allow academic researchers to use study data, 80% and 75%, respectively, would grant access to government and industry researchers. Concern about privacy was related to lower willingness to participate only when respondents were told that they would receive $50 for participation and would not receive individual research results back. Among respondents who were told that they would receive $200 or individual research results, privacy concerns were not related to willingness. Survey respondents valued both privacy and participation in biomedical research. Despite pervasive privacy concerns, 60% would participate in a biobank. Assuring research participants that their privacy will be protected to the best of researchers' abilities may increase participants' acceptance of consent for broad research uses of biobank data by a wide range of researchers.

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Barriers to Genetic Testing Among Persons at Risk for Alpha-1 Antitrypsin Deficiency

Cited by 6 publications

References 26 publications

Public Perceptions of Disease Severity but Not Actionability Correlate with Interest in Receiving Genomic Results: Nonalignment with Current Trends in Practice

Public Perceptions of Disease Severity but Not Actionability Correlate with Interest in Receiving Genomic Results: Nonalignment with Current Trends in Practice

Detection of alpha-1 antitrypsin deficiency: the past, present and future

Public Opinion about the Importance of Privacy in Biobank Research

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