Direct-to-consumer genetic tests and Canadian genetic counsellors: An exploration of professional duties in response to novel biotechnologies
Bibliographic record
Abstract
Direct-to-consumer genetic tests (DTC tests) for health purposes provide genetic information directly to consumers, usually without the intervention of healthcare professionals.The results of such tests may be used by consumers to make informed health and lifestyle choices.That being said, without mediation by healthcare professionals, there is concern for consumer informed consent and privacy.As well, the raw data and results of tests may be misunderstood and misinterpreted by consumers, who may misconstrue the products as medical-grade, clinically useful, and scientifically valid.This could have serious implications for the healthcare system when important diagnoses are subsequently delayed, or consumers self-refer to healthcare providers.There is consensus in the literature and among the Canadian and American Medical and Genetic Counselling Associations that genetic counsellors should be involved in pre-and postcounselling of DTC tests.However, there is a paucity of research regarding how such services could be provided.Here, a close-ended, 48-question quantitative online survey explores how Canadian genetic counsellors could mediate the use of such disruptive technology, from iv participating in public education, to promoting consumer informed consent and interpretation of results.These additional roles challenge the existing duties of genetic counsellors and could combat in part the ethical dilemmas raised by the current un-regulated state of DTC genetic tests in Canada.The survey focuses on three key areas: counsellors' concerns regarding 1) informed consent and 2) privacy, and 3) potential policy actions genetic counsellors/counselling associations could implement.Participants were recruited through the Canadian Association of Genetic Counsellors listserv, and the data were analyzed through descriptive statistics.The data were analyzed in regard to the professional duties of genetic counsellors and updated roles are suggested in light of the limited resources of genetic counsellors, while considering the insensitivity of DTC tests toward people of colour and the challenges such tests pose for Indigenous communities.DTC tests could mark a shift towards preventative models of healthcare, with citizens taking active roles to monitor their health, and pose a powerful knowledge translation tool for increasing public science literacy and empowering patients in the genomic era, but with the current flaws, the tests remain merely an untapped potential.This study adds to the existing literature on the professional duties of genetic counsellors and builds on the calls for genetic counsellors to intervene in DTC tests.Additionally, this study aids genetic counsellors and physicians in better understanding the role of genetic counsellors and how to best utilize their professional skills around DTC tests in order to minimize burdens on the healthcare system, and further the understanding of the support required by DTC test consumers. Résumé de la Thèse [543 mots]Les tests génétiques destinés directement aux consommateurs (tests DAC) à des fins de santé fournissent des informations génétiques directement aux consommateurs, généralement sans l'intervention de professionnels de la santé.Les résultats de ces tests peuvent être utilisés par les guidance and encouragement throughout this project.His enthusiasm, support, and detailed feedback at every stage was incredibly helpful and I hope to emulate his dedication and meticulousness in my own career.I would also like to thank my committee members, Prof.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.005 | 0.011 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.025 | 0.007 |
| Scholarly communication | 0.005 | 0.001 |
| Open science | 0.002 | 0.003 |
| Research integrity | 0.002 | 0.003 |
| Insufficient payload (model declined to judge) | 0.011 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".