Was it worth it? Patients’ perspectives on the perceived value of genomic-based individualized medicine (original) (raw)
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Genetics in Medicine, 2013
Next-generation genomic sequencing offers significant clinical promise, and the rapidly decreasing cost of these technologies implies that whole-exome and whole-genome sequencing may soon replace conventional genetic testing. In contrast to current methods, these comprehensive sequencing approaches are likely to generate large numbers of incidental findings (IFs). 1 These findings will be of varying clinical significance: some may be well studied and medically actionable, whereas others may not be validated or clinically relevant. 2 Previous research on the benefit to the "end user" of genetic information-the patient-focused on the clinical utility of IFs, 3,4 with clinical utility defined as the potential for a given finding to improve health outcomes. Researchers in the social sciences, however, have long acknowledged that patients also value information that does not inform clinical management. 5-7 In genetics, the "value of knowing" is an important aspect regarding the utility of genomic technology. For example, Facio et al. 8 reported that a third of participants receiving genomic sequencing in the ClinSeq study preferred to receive genomic results on the grounds that all knowledge is positive. Another study found that lay participants felt that they-not experts-were best able to judge the utility of potential genetic information. 9 Although several studies have measured preferences for genetic testing, 10-16 to our knowledge, no studies have been designed or conducted to quantify patient preferences for IFs from genomic sequencing. Such studies are needed to gain a comprehensive understanding of the personal utility of genome sequencing and to inform practice guidelines and other policies related to the return of results from genomic testing. Furthermore, individuals' preferences surrounding IFs can inform the development of educational materials and decision-support tools to guide patients and providers through the process of returning these findings. Discrete-choice experiments (DCEs) are tools for quantifying patient preferences for a good or service. 17-20 DCEs are a type of conjoint analysis that includes a range of methods (ranking, Purpose: Little is known about the factors that influence patients' preferences for the return of incidental findings from genome sequencing. This study identified attributes of incidental findings that were important to patients and developed a discrete-choice experiment instrument to quantify patient preferences. Methods: An initial set of key attributes and attribute levels was developed from a literature review and in consultation with experts. The attributes' salience and communication were refined using focus group methodology (n = 12) and cognitive interviews (n = 6) with patients who had received conventional genetic testing for familial colorectal cancer or polyposis syndromes. The attributes and levels used in the hypothetical choices presented to participants were identified using validated experimental design techniques. results: The final discrete-choice experiment instrument incorporates the following attributes and levels: lifetime risk of disease (5, 40, 70%); disease treatability (medical, lifestyle, none); disease severity (mild, moderate, severe); carrier status (yes, no); drug response likelihood (high, moderate, none
Assessing patient readiness for personalized genomic medicine
Journal of Community Genetics, 2018
The Human Genome Project and the continuing advances in DNA sequencing technology have ushered in a new era in genomic medicine. Successful translation of genomic medicine into clinical care will require that providers of this information are aware of the level of understanding, attitudes, perceived risks, benefits, and concerns of their patients. We used a mixed methods approach to conduct in-depth interviews with participants in the NCI-funded Breast Cancer Family Registry (BCFR). Our goal was to gain a better understanding of attitudes towards different types and amounts of genomic information, current interest in pursuing genomic testing, and perceived risks and benefits. We interviewed 32 women from the six BCFR sites in the USA, Canada, and Australia. In this sample of women with a personal or family history of breast cancer, we found high acknowledgement of the potential of genetics/genomics to improve their own health and that of their family members through lifestyle changes or alterations in their medical management. Respondents were more familiar with cancer genetics than the genetics of other diseases. Concerns about the testing itself included a potential sense of loss of control over health, feelings of guilt on passing on a mutation to a child, loss of privacy and confidentiality, questions about the test accuracy, and the potential uncertainty of the significance of test results. These data provide important insights into attitudes about the introduction of increasingly complex genetic testing, to inform interventions to prepare individuals for the introduction of this new technology into their clinical care.
Patients’ views on incidental findings from clinical exome sequencing
This article characterizes the opinions of patients and family members of patients undergoing clinical genomic-based testing regarding the return of incidental findings from these tests. Over sixteen months, we conducted 55 in-depth interviews with individuals to explore their preferences regarding which types of results they would like returned to them. Responses indicate a diversity of attitudes toward the return of incidental findings and a diversity of justifications for those attitudes. The majority of participants also described an imperative to include the patient in deciding which results to return rather than having universal, predetermined rules governing results disclosure. The results demonstrate the importance of a patient centered-approach to returning incidental findings.
The social utility of clinical exome sequencing
Objective: Examine the presentation of clinical and social implications of exome sequencing findings during patient-geneticist interactions. Methods: Video-recordings of 34 returns of exome sequencing results with findings in an academic genetics clinic were examined using an inductive thematic analysis to distinguish categories of consequences. We then operationalized these categories for structured observation coding of parent or geneticist/genetic counselor-initiated mention of consequences, complemented with semi-structured interviews with 16 families. This allowed us to provide basic descriptive statistics including frequencies and bivariate analyses. Because variables were generally dichotomous, we used chi-square tests of independence.
European Journal of Human Genetics, 2014
Developments in genomics, including next-generation sequencing technologies, are expected to enable a more personalized approach to clinical care, with improved risk stratification and treatment selection. In oncology, personalized medicine is particularly advanced and increasingly used to identify oncogenic variants in tumor tissue that predict responsiveness to specific drugs. Yet, the translational research needed to validate these technologies will be conducted in patients with late-stage cancer and is expected to produce results of variable clinical significance and incidentally identify genetic risks. To explore the experiential context in which much of personalized cancer care will be developed and evaluated, we conducted a qualitative interview study alongside a pilot feasibility study of targeted DNA sequencing of metastatic tumor biopsies in adult patients with advanced solid malignancies. We recruited 29/73 patients and 14/17 physicians; transcripts from semi-structured interviews were analyzed for thematic patterns using an interpretive descriptive approach. Patient hopes of benefit from research participation were enhanced by the promise of novel and targeted treatment but challenged by non-findings or by limited access to relevant trials. Family obligations informed a willingness to receive genetic information, which was perceived as burdensome given disease stage or as inconsequential given faced challenges. Physicians were optimistic about long-term potential but conservative about immediate benefits and mindful of elevated patient expectations; consent and counseling processes were expected to mitigate challenges from incidental findings. These findings suggest the need for information and decision tools to support physicians in communicating realistic prospects of benefit, and for cautious approaches to the generation of incidental genetic information.
Patient views on incidental findings from exome sequencing
Applied & Translational Genomics, 2015
This article characterizes the opinions of patients and family members of patients undergoing clinical genomic based testing regarding the return of incidental findings from these tests. Over sixteen months, we conducted 55 in-depth interviews with individuals to explore their preferences regarding which types of results they would like returned to them. Responses indicate a diversity of attitudes toward the return of incidental findings and a diversity of justifications for those attitudes. The majority of participants also described an imperative to include the patient in deciding which results to return rather than having universal, predetermined rules governing results disclosure. The results demonstrate the importance of a patient centered-approach to returning incidental findings.
Clinical Genetics
Next generation sequencing is increasingly being chosen as a diagnostic tool for cases of expected genetic, but unresolved origin. The consequential increased need for decisions on disclosure of unsolicited findings poses a challenge for the informed consent procedure. This study explored the first experiences with, and needs for, the informed consent procedure in diagnostic exome sequencing, with the stakeholders involved. Semi-structured interviews were conducted with 11 professional experts and one professional gave a written response. Furthermore, the counseling process was observed in three cases where exome sequencing was offered, followed by interviews with the patient (representative) and the genetic counselor. The respondents preferred an opt-out for unsolicited findings but also identified many challenges and therefore more experiences with exome sequencing was considered needed. Context-dependent decision-making was observed and an Advisory Board for unsolicited findings ...
Clinical providers’ experiences with returning results from genomic sequencing: an interview study
BMC Medical Genomics
Background: Current medical practice includes the application of genomic sequencing (GS) in clinical and research settings. Despite expanded use of this technology, the process of disclosure of genomic results to patients and research participants has not been thoroughly examined and there are no established best practices. Methods: We conducted semi-structured interviews with 21 genetic and non-genetic clinicians returning results of GS as part of the NIH funded Clinical Sequencing Exploratory Research (CSER) Consortium projects. Interviews focused on the logistics of sessions, participant/patient reactions and factors influencing them, how the sessions changed with experience, and resources and training recommended to return genomic results. Results: The length of preparation and disclosure sessions varied depending on the type and number of results and their implications. Internal and external databases, online resources and result review meetings were used to prepare. Respondents reported that participants' reactions were variable and ranged from enthusiasm and relief to confusion and disappointment. Factors influencing reactions were types of results, expectations and health status. A recurrent challenge was managing inflated expectations about GS. Other challenges included returning multiple, unanticipated and/or uncertain results and navigating a rare diagnosis. Methods to address these challenges included traditional genetic counseling techniques and modifying practice over time in order to provide anticipatory guidance and modulate expectations. Respondents made recommendations to improve access to genomic resources and genetic referrals to prepare future providers as the uptake of GS increases in both genetic and non-genetic settings. Conclusions: These findings indicate that returning genomic results is similar to return of results in traditional genetic testing but is magnified by the additional complexity and potential uncertainty of the results. Managing patient expectations, initially identified in studies of informed consent, remains an ongoing challenge and highlights the need to address this issue throughout the testing process. The results of this study will help to guide future providers in the disclosure of genomic results and highlight educational needs and resources necessary to prepare providers. Future research on the patient experience, understanding and follow-up of recommendations is needed to more fully understand the disclosure process.
Quality of life drives patients’ preferences for secondary findings from genomic sequencing
European Journal of Human Genetics, 2020
There is growing impetus to include measures of personal utility, the nonmedical value of information, in addition to clinical utility in health technology assessment (HTA) of genomic tests such as genomic sequencing (GS). However, personal utility and clinical utility are challenging to define and measure. This study aimed to explore what drives patients' preferences for hypothetically learning medically actionable and non-medically actionable secondary findings (SF), capturing clinical and personal utility; this may inform development of measures to evaluate patient outcomes following return of SF. Semistructured interviews were conducted with adults with a personal or family cancer history participating in a trial of a decision aid for selection of SF from genomic sequencing (GS) (www.GenomicsADvISER.com). Interviews were analyzed thematically using constant comparison. Preserving health-related and non-health-related quality of life was an overarching motivator for both learning and not learning SF. Some participants perceived that learning SF would help them "have a good quality of life" through informing actions to maintain physical health or leading to psychological benefits such as emotional preparation for disease. Other participants preferred not to learn SF because results "could ruin your quality of life," such as by causing negative psychological impacts. Measuring health-related and non-health-related quality of life may capture outcomes related to clinical and personal utility of GS and SF, which have previously been challenging to measure. Without appropriate measures, generating and synthesizing evidence to evaluate genomic technologies such as GS will continue to be a challenge, and will undervalue potential benefits of GS and SF.
Personalized Medicine, 2016
Aim: To evaluate patients’ expectations regarding the perceived utility of whole-genome sequencing (WGS). Materials & methods: We used latent class analysis to characterize individuals enrolled in the MedSeq Project based on their perceived utility of WGS. Multinomial logistic regression was used to evaluate associations between participant characteristics and latent classes. Results: Findings characterized participants into one of three perceived utility groups: enthusiasts, who had a high probability of agreement with all utility items (23%); health conscious, who perceived utility in medically related areas (60%) or skeptics, who had a low probability of agreement with utility items (17%). Trust significantly predicted latent class. Conclusion: Understanding differences in perceived utility of WGS may inform strategies for uptake of this technology.