Exploring the challenges of and solutions to sharing personal genomic data for use in healthcare
Lasse Parvinen, Ari Alamäki, Heli Hallikainen, Marko Mäki
Health Informatics Journal, January-March 2023; 29(1)
Boosted by the COVID-19 pandemic, as well as the tightened General Data Protection Regulation (GDPR) legislation within the European Union (EU), individuals have become increasingly concerned about privacy. This is also reflected in how willing individuals are to consent to sharing personal data, including their health data. To understand this behaviour better, this study focuses on willingness to consent in relation to genomic data. The study explores how the provision of educational information relates to willingness to consent, as well as differences in privacy concerns, information sensitivity and the perceived trade-off value between individuals willing versus unwilling to consent to sharing their genomic data. Of the respondents, 65% were initially willing to consent, but after educational information 89% were willing to consent and only 11% remained unwilling to consent. Educating individuals about potential health benefits can thus help to correct the beliefs that originally led to the unwillingness to share genomic data.
Revisiting informed consent in forensic genomics in light of current technologies and the times
Bruce Budowle, Antti Sajantila
International Journal of Legal Medicine, 16 January 2023
Informed consent is based on basic ethical principles that should be considered when conducting biomedical and behavioral research involving human subjects. These principles—respect, beneficence, and justice—form the foundations of informed consent which in itself is grounded on three fundamental elements: information, comprehension, and voluntary participation. While informed consent has focused on human subjects and research, the practice has been adopted willingly in the forensic science arena primarily to acquire reference samples from family members to assist in identifying missing persons. With advances in molecular biology technologies, data mining, and access to metadata, it is important to assess whether the past informed consent process and in particular associated risks are concomitant with these increased capabilities. Given the state-of-the-art, areas in which informed consent may need to be modified and augmented are as follows: reference samples from family members in missing persons or unidentified human remains cases; targeted analysis of an individual(s) during forensic genetic genealogy cases to reduce an investigative burden; donors who provide their samples for validation studies (to include population studies and entry into databases that would be applied to forensic statistical calculations) to support implementation of procedures and operations of the forensic laboratory; family members that may contribute samples or obtain genetic information from a molecular autopsy; and use of medical and other acquired samples that could be informative for identification purposes. The informed consent process should cover (1) purpose for collection of samples; (2) process to analyze the samples (to include type of data); (3) benefits (to donor, target, family, community, etc. as applicable); (4) risks (to donor, target, family, community, etc. as applicable); (5) access to data/reports by the donor; (6) sample disposition; (7) removal of data process (i.e., expungement); (8) process to ask questions/assessment of comprehension; (9) follow-up processes; and (10) voluntary, signed, and dated consent. Issues surrounding these topics are discussed with an emphasis on addressing risk factors. Addressing informed consent will allow human subjects to make decisions voluntarily and with autonomy as well as secure the use of samples for intended use.
Informed consent for expanded carrier screening: Past, present, and future
Britton D. Rink
Prenatal Diagnosis, 13 January 2023
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.
Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection
Bronwyn Terrill, Lauren McKnight, Angela Pearce, Heather Gordon, William Lo, I-Chieh Jennifer Lee, Monica Runiewicz, Alex Palmer, Lesley Andrews, Edwin Kirk, Daniel Goldberg, John Tucker, David Murray, Warren Kaplan, Sarah Kummerfeld, Leslie Burnett
European Journal of Human Genetics, 11 January 2023
A Community Genetics carrier screening program for the Jewish community has operated on-site in high schools in Sydney (Australia) for 25 years. During 2020, in response to the COVID-19 pandemic, government-mandated social-distancing, ‘lock-down’ public health orders, and laboratory supply-chain shortages prevented the usual operation and delivery of the annual testing program. We describe development of three responses to overcome these challenges: (1) pivoting to online education sufficient to ensure informed consent for both genetic and genomic testing; (2) development of contactless telehealth with remote training and supervision for collecting genetic samples using buccal swabs; and (3) a novel patient and specimen identification ‘GeneTrustee’ protocol enabling fully identified clinical-grade specimens to be collected and DNA extracted by a research laboratory while maintaining full participant confidentiality and privacy. These telehealth strategies for education, consent, specimen collection and sample processing enabled uninterrupted delivery and operation of complex genetic testing and screening programs even amid pandemic restrictions. These tools remain available for future operation and can be adapted to other programs.
Evaluating visual imagery for participant understanding of research concepts in genomics research
Erin Rothwell, Naomi O. Riches, Erin Johnson, Kimberly A. Kaphingst, Kelsey Kehoe, Sabrina Malone Jenkins, Rachel Palmquist, Carrie Torr, Caren J. Frost, Bob Wong, Joshua L. Bonkowsky
Journal of Community Genetics, 19 December 2022
Informed consent is crucial for participant understanding, engagement, and partnering for research. However, current written informed consents have significant limitations, particularly for complex topics such as genomics and biobanking. Our goal was to identify how participants visually conceptualize terminology used in genomics and biobanking research studies, which might provide a novel approach for informed consent. An online convenience sample was used from May to July 2020 to collect data. Participants were asked to draw 10 randomly chosen words out of 32 possible words commonly used in consent forms for genomics and biobanking research. An electronic application captured drawings that were downloaded into a qualitative software program for analysis. A total of 739 drawings by 269 participants were captured. Participants were mostly female (61.3%), eight different race/ethnicities were represented (15.6% Black, 13.8% Hispanic), and most had some college education (68.8%). Some words had consistent visual themes such as different types of risky activities for risk or consistent specific images such as a double helix for DNA. Several words were frequently misunderstood (e.g., ascend for assent), while others returned few submissions (e.g., phenotype or whole genome sequencing). We found that although some words used in genomics and biobanking research were visually conceptualized in a common fashion, but misunderstood or less well-known words had no, few, or mistaken drawings. Future research can explore the incorporation of visual images to improve participant comprehension during consent processes, and how to utilize visual imagery to address more challenging concepts.
Rapid Genome Sequencing: Consent for New Technologies in the Neonatal Intensive Care Context
Fiona Lynch, Trisha Prentice, Lynn Gillam, Zornitza Stark, Christopher Gyngell
Pediatrics, 29 November 2022; 150(6)
The clinical utility of rapid genome sequencing (rGS) in critically unwell infants has been consistently demonstrated, and there are calls for rGS to be implemented as a first-line test in the NICU. A diagnosis from rGS can enable rapid initiation of precision treatment, making it potentially lifesaving. However, in many patients rGS leads to the diagnosis of severe and life-limiting conditions, prompting discussion with families about withdrawal of life-sustaining treatment.
The complexity of information about rGS, together with the heightened emotions of parents in the NICU, poses significant challenges for informed decision making in this context. We present a case where both parents are unable to provide informed consent, and the treating team must decide whether to proceed with rGS. Our discussion highlights the important differences between genome sequencing and other types of genetic testing, and the crucial role played by pre-test counseling in facilitating informed consent and preparing parents for a range of possible outcomes. We then discuss the consent paradigms at play in NICUs; whereas admission generally comes with an understanding that the treating team will perform interventions thought to be in the best interest of the child, rGS is substantially different because of its long-term implications for patients and family members. Finally, we look at the ethical interplay between parental consent and the interests of the child. We conclude by showing how cases like this are resolved at our tertiary center and how they may be resolved differently in future.
Patient informed consent for a clinical trial of gene-edited pig kidney transplantation: A representative consent form
David K. C. Cooper
Xenotransplantation, 26 November 2022
When clinical trials of gene-edited pig organ transplantation are initiated, the consent form that the patient is requested to sign will be an important document. Consent to receive a pig xenograft will have significant differences when compared with the requirements of most experimental clinical procedures. We here suggest a consent form for pig kidney transplantation that addresses the major points that will be required and hope it will provide a basis for discussion and future modification, if necessary. There is purposely some repetition in the document, but we believe this is necessary to ensure that the patient has a clear understanding of what he/she is consenting to.
Equitable and Informed Consent in Genetic Studies
Ann Marie Navar, Sadiya S. Khan
JAMA Cardiology, 16 November 2022
…Importantly, these participants comprised an already highly selected population in whom higher levels of both genetic knowledge and researcher trust would be expected. Participants were recruited largely from tertiary care academic centers, were cared for by a heart failure program, and had consented to undergo whole-exome sequencing. Despite this, several knowledge gaps were identified. For example, 1 in 5 patients believed that once a genetic variant is found, disease can always be prevented or cured. Genetic knowledge was also lower in Hispanic participants and non-Hispanic Black participants compared with non-Hispanic White participants. Reasons for this are unknown, likely multifactorial, and may include differences in exposure to prior education about genetics, disparities in prior referrals for genetic counseling, and differences in the effectiveness of the informed consent process in addressing gaps in knowledge about genetic testing…
Core elements of participant consent documents for Canadian human genomics research and the National Human Genome Library: guidance for policy
Holly Longstaff, Jaime Flamenbaum, Etienne Richer, Jeanne Egar, Christopher R. McMaster, Ma’n H. Zawati
Canadian Medical Association Journal, 15 November 2022; 194(44)
…The purpose of this guidance for policy is to present a core set of elements for participant consent documents to be used in local human genome–based research projects across Canada and to support the development of the national CHGL. These core elements can be also used as a research ethics tool when evaluating human genome–based research projects…
Sharing genomic data for health research: institutional trust and trustworthiness, and informed consent
Canadian Medical Association Journal, 15 November 2022; 194(44)
Recent years have seen a dramatic increase in the collection, storage and curation of human genomic data for biomedical research. These data sets hold great promise for research into the genetic basis of disease, and represent more diverse populations than have traditionally been accessible in research. Large-scale federated data networks like the proposed Canadian Human Genome Library (CHGL) represent a potential way of providing secure access to these data to researchers beyond select institutions. However, the promise of human genomics research has been encumbered by ethical concerns about data sharing. One particular concern is whether it is possible to obtain informed consent to the population-level research that genomic databases like the CHGL are intended to facilitate.
Participants in genome-based research or patients who receive genome or exome sequencing as part of their clinical care may be asked to consent to allow their data — not only genomic data but associated clinical or administrative data stored by an institution — to be made available to future researchers. Because the future uses of these data are unknown at the time of data collection, concern has been raised about whether consent for this future data use is, or can be, informed…