Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care (original) (raw)
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Physician Experiences and Understanding of Genomic Sequencing in Oncology
Journal of genetic counseling, 2017
The amount of information produced by genomic sequencing is vast, technically complicated, and can be difficult to interpret. Appropriately tailoring genomic information for non-geneticists is an essential next step in the clinical use of genomic sequencing. To initiate development of a framework for genomic results communication, we conducted eighteen qualitative interviews with oncologists who had referred adult cancer patients to a matched tumor-normal tissue genomic sequencing study. In our qualitative analysis, we found varied levels of clinician knowledge relating to sequencing technology, the scope of the tumor genomic sequencing study, and incidental germline findings. Clinicians expressed a perceived need for more genetics education. Additionally, they had a variety of suggestions for improving results reports and possible resources to aid in results interpretation. Most clinicians felt genetic counselors were needed when incidental germline findings were identified. Our re...
Patient perspectives on molecular tumor profiling: “Why wouldn’t you?”
BMC Cancer, 2019
Aim: This study explored the attitudes of patients with advanced cancer towards MTP and return of results, prior to undergoing genomic testing within a research program. Methods: Participants were recruited as part of the longitudinal PiGeOn (Psychosocial Issues in Genomics in Oncology) study involving patients with advanced/metastatic solid cancer who had exhausted therapeutic options and who were offered MTP in order to identify cognate therapies. Twenty patients, selected by purposive sampling, were interviewed around the time they gave consent to MTP. Interviews were audio recorded, transcribed and analysed using thematic analysis. Themes identified in the transcripts were cross-validated via qualitative responses to the PiGeOn study survey (n = 569; 63%). Results: All interviewed participants gave consent to MTP without reservation. Three themes were identified and further supported via the survey responses: (1) Obvious agreement to participate, primarily because of desire for new treatments and altruism. (2) The black boxwhile participant knowledge of genomics was generally poor, faith in their oncologists and the scientific process encouraged them to proceed with testing; and (3) Survival is the priorityreceiving treatment to prolong life was the priority for all participants, and other issues such as identification of a germline variant were generally seen as ancillary. Conclusion: Having advanced cancer seemed to abrogate any potential concerns about MTP. Participants valued the research for varied reasons, but this was secondary to their priority to survive. While no negative attitudes toward MTP emerged, limitations in understanding of genomics were evident.
The value of genomic sequencing is often understood in terms of its ability to affect diagnosis or treatment. In these terms, successes occur only in a minority of cases. This paper presents views from patients who had exome sequencing done clinically to explore how they perceive the utility of genomic medicine. The authors used semi-structured, qualitative interviews in order to study patients' attitudes toward genomic sequencing in oncology and rare-disease settings. Participants from 37 cases were interviewed. In terms of the testing's key values-regardless of having received what clinicians described as meaningful results-participants expressed four qualities that are separate from traditional views of clinical utility: Participants felt they had been empowered over their own health. They felt they had contributed altruistically to the progress of genomic technology in medicine. They felt their suffering had been legitimated. They also felt a sense of closure, having done everything they could. Patients expressed overwhelmingly positive attitudes toward sequencing. Their rationale was not solely based on the results' clinical utility. It is important for clinicians to understand this non-medical reasoning as it pertains to patient decision-making and informed consent.
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.
New Genetics and Society, 2013
This article explores commercial, academic, and national initiatives aimed at using sequencing technologies to generate "actionable" genomic results that can be applied to the clinical management of oncology patients. We argue that the term "actionable" is not merely a buzzword, but signals the emergence of a distinctive sociotechnical regime of genomic medicine in oncology. Unlike other regimes of genomic medicine that are organized around assessing and managing inherited risk for developing cancer (e.g., BRCA testing), actionable regimes aim to generate predictive relationships between genetic information and drug therapies, thereby generating new kinds of clinical actions. We explore how these genomic results are made actionable by articulating them with existing clinical routines, clinical trials, regulatory regimes, and health care systems; and in turn, how clinical sequencing programs have begun to reconfigure knowledge and practices in oncology. Actionability regimes confirm the emergence of bio-clinical decision-making in oncology, whereby the articulation of molecular hypotheses and experimental therapeutics become central to patient care.
Patient Education and Counseling, 2020
This study explored family communication about undertaking genomic sequencing, and intentions to communicate pertinent heritable results to family members. Methods: Semi-structured interviews were conducted with cancer patients (n = 53) and their relatives (n = 20) who underwent germline genome sequencing or molecular tumor testing. Interviews were audio-recorded, transcribed and analyzed using thematic analysis. Results: Key themes relevant to family communication about undertaking sequencing included: perceiving family member interest, delaying discussion until results were received, having shared capacity to understand and cope, and having open communication in the family. Intended communication subsequent to receiving results was affected by: disease severity, risk management options, degree of closeness in the family, sense of responsibility, and potential adverse impacts on family. Resource and support needs varied based on the complexity of test results, health professionals' availability, and disease severity. Unique subthemes were identified for specific subgroups. Conclusion: Current findings support the need to assess the impact and resource needs specific to each clinical application of genomic sequencing. Practice implications: Increasingly sophisticated and complex clinical genomic sequencing warrants development of family-centered interventions and resources to facilitate preference-sensitive communication about genomic sequencing, including disseminating relevant information to family members.
Primary care providers' experiences with and perceptions of personalized genomic medicine
Canadian family physician Medecin de famille canadien, 2016
To assess primary care providers' (PCPs') experiences with, perceptions of, and desired role in personalized medicine, with a focus on cancer. Qualitative study involving focus groups. Urban and rural interprofessional primary care team practices in Alberta and Ontario. Fifty-one PCPs. Semistructured focus groups were conducted and audiorecorded. Recordings were transcribed and analyzed using techniques informed by grounded theory including coding, interpretations of patterns in the data, and constant comparison. Five focus groups with the 51 participants were conducted; 2 took place in Alberta and 3 in Ontario. Primary care providers described limited experience with personalized medicine, citing breast cancer and prenatal care as main areas of involvement. They expressed concern over their lack of knowledge, in some circumstances relying on personal experiences to inform their attitudes and practice. Participants anticipated an inevitable role in personalized medicine prim...
South African journal of bioethics and law, 2024
The development of gene expression profiling and next-generation sequencing technologies has steered oncogenomics to the forefront of precision medicine. This created a need for harmonious cooperation between clinicians and researchers to increase access to precision oncology, despite multiple implementation challenges being encountered. The aim is to apply personalised treatment strategies early in cancer management, targeting tumour subtypes and actionable gene variants within the individual's broader clinical risk profile and wellbeing. A knowledge-generating database linked to the South African Medical Research Council's Genomic Centre has been created for the application of personalised medicine, using an integrated service and research approach. Insights gained from patient experiences related to tumour heterogeneity, access to targeted therapies and incidental findings of pathogenic germline variants in tumour DNA, provided practice-changing evidence for the implementation of a cost-minimisation pathology-supported genetic testing strategy. Integrating clinical care with genomic research through data sharing advances personalised medicine and maximises precision oncology benefits.