Defining the Critical Components of Informed Consent for Genetic Testing

Ormond, Kelly E.; Borensztein, Maia J.; Hallquist, Miranda L. G.; Buchanan, Adam H.; Faucett, W. Andrew; Peay, Holly; Smith, Maureen E.; Tricou, Eric P.; Uhlmann, Wendy R.; Wain, Karen E.; Coughlin, Curtis R.; Workgroup, On Behalf Of The Clinical Genome CADRe

doi:10.3390/jpm11121304

Cited by 11 publications

(22 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Across all scenarios, respondents mentioned that topics related to providing basic information about genetics were missing from the concept list. While traditional genetic counseling has historically included a review of genes, chromosomes, inheritance patterns, and the specifics of the testing technology, recent literature and our own prior study suggest that this may be more information than many patients need, especially during an informed consent process 2,3,7 . Since the value of providing basic genetics educational information has not been supported by empirical research, these findings may represent provider views of traditional norms.…”

Section: Discussionmentioning

confidence: 99%

“…Two optional open-ended questions followed: “What topic(s), if any, is critically missing?” and “What topic(s), if any, would you remove as non-critical?”. Finally, respondents were shown the complete list of consent concepts identified in the prior study 7 to provide open-ended feedback.…”

Section: Methodsmentioning

confidence: 99%

“…and "What topic(s), if any, would you remove as non-critical?". Finally, respondents were shown the complete list of consent concepts identified in the prior study 7 to provide open-ended feedback.…”

Section: Survey Instrumentationmentioning

confidence: 99%

“…Critical and minimally necessary concepts identified through expert consensus process in prior study 7 Long QT Syndrome Scenario 30-year-old with a clinical diagnosis of LQTS due to personal medical history and consistent family history. Discussion of genetic testing using multigene panel related to LQTS.…”

Section: Core Concept For Informed Consentmentioning

confidence: 99%

“…As a first step, a prior study used a modified Delphi approach with clinical genetics and bioethics experts to establish consensus on the minimum critical educational components of an informed consent process 7 . Topics identified as important in any pre-test conversation about clinical genetic testing were: (1) genetic testing is voluntary; (2) purpose of the test and what it tests for; (3) what results will be returned; (4) other potential results and options for choice (e.g., secondary findings); (5) how, if at all, prognosis and management could be impacted by the results; (6) results may be important to share with relatives and could impact family members in different ways (their health, emotions, or relationships); (7) test limitations and next steps; (8) to whom results are reported; (9) potential risk for genetic discrimination and/or stigma and protections provided by relevant federal and state laws. As expert opinions can differ from that of the general population of practicing providers, the current study aimed to assess to what degree US-based clinical genetics providers (genetic counselors (GC) and medical geneticists) agreed with the previously developed list of minimum critical educational components of informed consent.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Defining the Critical Educational Components of Informed Consent for Genetic Testing: Views of US-Based Genetic Counselors and Medical Geneticists

Hallquist¹,

Borensztein

Coughlin

et al. 2022

Preprint

Self Cite

View full text Add to dashboard Cite

The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendation (CADRe) framework proposes that key components of informed consent for genetic testing can be covered with a targeted discussion for many conditions rather than a time-intensive traditional genetic counseling approach. We surveyed US genetics professionals (medical geneticists and genetic counselors) on their response to scenarios that proposed core informed consent concepts for clinical genetic testing developed in a prior expert consensus process. The anonymous online survey included responses to 3 (of 6 possible) different clinical scenarios that summarized the application of the core concepts. There was a binary (yes/no) question asking respondents whether they agreed the scenarios included the minimum necessary and critical educational concepts to allow an informed decision. Respondents then provided open-ended feedback on what concepts were missing or could be removed. At least one scenario was completed by 238 respondents. For all but one scenario, over 65% of respondents agreed that the identified concepts portrayed were sufficient for an informed decision; the exome scenario had the lowest agreement (58%). Qualitative analysis of the open-ended comments showed no consistently mentioned concepts to add or remove. The level of agreement with the example scenarios suggests that the minimum critical educational components for pre-test informed consent proposed in our prior work is a strong starting place for clinicians to provide targeted pre-test discussions. This may be helpful in providing consistency to the clinical practice of both genetics and non-genetics providers, and in future guideline development.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Survey Instrumentationmentioning

confidence: 99%

Section: Core Concept For Informed Consentmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Defining the Critical Educational Components of Informed Consent for Genetic Testing: Views of US-Based Genetic Counselors and Medical Geneticists

Hallquist¹,

Borensztein

Coughlin

et al. 2022

Preprint

Self Cite

View full text Add to dashboard Cite

show abstract

Comparison of genetic testing documentation between genetic counselors and non‐genetic counselors

Feldman

Nagaraj

Collins

et al. 2023

Journal of Genetic Counseling

View full text Add to dashboard Cite

Implementation of genetic testing in healthcare increases, but access to, and number of, genetics providers remain scarce. This study analyzed the impact of genetic counselor (GC) involvement on frequency of documentation of pre-and post-test counseling of genetic testing between GCs and genetics providers (GPs), and GCs and non-genetics providers (NGPs). A retrospective chart review of 467 charts from patients who had genetic testing ordered between July 2016 and June 2018 at a primarily pediatric institution was conducted. GCs were involved for 223 charts (GC group), and not involved for 244 (non-GC group). The non-GC group was further stratified into patient charts with Genetics Providers (GP group) (n = 100) involved and those with Non-Genetics Providers (NGP group) (n = 144) involved. Categorical, binomial, pre-test variables (counseling, test description, results possibilities, insurance coverage, and cost) and categorical, binomial, post-test variables (results disclosure, family testing recommendations, recurrence risk, and provided resources) were collected and compared using Fisher's exact test (p < 0.005). With the exception of test description, documentation for all variables occurred more frequently in the GC group compared to the NGP group (all p < 0.001). Documentation for the majority of variables also occurred more frequently in the GC group compared to the GP group (p < 0.005), with the exceptions of overall pre-test counseling and family testing recommendations. GC involvement was associated with increased documentation of most pre-and post-test genetic counseling variables. With increased emphasis placed on transparency, accurateness, and access for patients of the EMR, in part due to the passage of the CARES Act, documentation should reflect the content of counseling provided. The cause of the documentation discrepancy identified may have differing effects on patient care and provider education.

show abstract

Informed consent for expanded carrier screening: Past, present, and future

Rink

2023

Prenatal Diagnosis

View full text Add to dashboard Cite

History, law, bioethics, and geocultural influences all have impacted the modern application of informed consent. It is a complex, multilayered process to communicate information and obtain voluntary patient permission before a health care intervention. Lack of provider education about genetic disorders, complexities of advanced genomic technologies, limited time during patient encounters, and low health literacy within a population all represent challenges to effective communication. There is no consensus on how informed consent in reproductive genetics is optimally obtained. Expanded carrier screening (ECS) is purposed to simultaneously test for a large list of diseases in a pan‐ethnic manner. The increased use of ECS is driven by advances in genomic technologies, decreased cost, an improved understanding of single gene disorders, and in support of reproductive autonomy. Academic organizations recommend pretest counseling when patients consider ECS, yet best practice is not established. Ongoing research is needed to determine how optimally implement informed consent given the increased complexity of ECS.

show abstract

Defining the Critical Components of Informed Consent for Genetic Testing

Cited by 11 publications

References 25 publications

Defining the Critical Educational Components of Informed Consent for Genetic Testing: Views of US-Based Genetic Counselors and Medical Geneticists

Defining the Critical Educational Components of Informed Consent for Genetic Testing: Views of US-Based Genetic Counselors and Medical Geneticists

Comparison of genetic testing documentation between genetic counselors and non‐genetic counselors

Informed consent for expanded carrier screening: Past, present, and future

Contact Info

Product

Resources

About