title: Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care.
abstract: 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.
authors.affiliation: 1] Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada [2] Joint Centre for Bioethics, University of Toronto, Toronto, ON, Canada.
authors.forename: Fiona A
authors.initials: FA
authors.lastname: Miller
authors.affiliation: Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
authors.forename: Robin Z
authors.initials: RZ
authors.lastname: Hayeems
authors.affiliation: Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
authors.forename: Jessica P
authors.initials: JP
authors.lastname: Bytautas
authors.affiliation: Princess Margaret Cancer Centre-University Health Network, Toronto, ON, Canada.
authors.forename: Philippe L
authors.initials: PL
authors.lastname: Bedard
authors.affiliation: London Health Sciences Centre, London, ON, Canada.
authors.forename: Scott
authors.initials: S
authors.lastname: Ernst
authors.affiliation: Juravinski Cancer Centre, Hamilton, ON, Canada.
authors.forename: Hal
authors.initials: H
authors.lastname: Hirte
authors.affiliation: Juravinski Cancer Centre, Hamilton, ON, Canada.
authors.forename: Sebastien
authors.initials: S
authors.lastname: Hotte
authors.affiliation: Princess Margaret Cancer Centre-University Health Network, Toronto, ON, Canada.
authors.forename: Amit
authors.initials: A
authors.lastname: Oza
authors.affiliation: Princess Margaret Cancer Centre-University Health Network, Toronto, ON, Canada.
authors.forename: Albiruni
authors.initials: A
authors.lastname: Razak
authors.affiliation: London Health Sciences Centre, London, ON, Canada.
authors.forename: Stephen
authors.initials: S
authors.lastname: Welch
authors.affiliation: London Health Sciences Centre, London, ON, Canada.
authors.forename: Eric
authors.initials: E
authors.lastname: Winquist
authors.affiliation: Ontario Institute for Cancer Research, Toronto, ON, Canada.
authors.forename: Janet
authors.initials: J
authors.lastname: Dancey
authors.affiliation: Princess Margaret Cancer Centre-University Health Network, Toronto, ON, Canada.
authors.forename: Lillian L
authors.initials: LL
authors.lastname: Siu
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004273:DNA, Neoplasm / Q000737:chemistry* / Q000235:genetics; D003657:Decision Making; D005260:Female; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D010353:Patient Education as Topic; D010361:Patients / Q000523:psychology*; D010820:Physicians / Q000941:ethics*; D057285:Precision Medicine / Q000379:methods*; D057566:Self Report; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D004273:DNA, Neoplasm