Immortal data: a qualitative exploration of patients’ understandings of genomic data

Patients are becoming more familiar with genomic data shaping their care as genomic medicine is ‘mainstreamed’ in the UK. In contrast to many time-bound medical investigations, germline genomic data remain constant across a lifespan, although interpretations may change as knowledge evolves. Because genetic code is shared with biological relatives, one person’s genomic data can have relevance for kin across generations and, when contributed to research, can aid interpretation for others—rendering such data ‘immortal’. This immortality generates ethical challenges: ensuring sufficiently informed consent for future and evolving interpretations; determining when and how often to reinterpret data; balancing patient confidentiality with duties to relatives; clarifying roles in communicating familial risk; and addressing questions about retention, access, and use of genomic data. This article qualitatively explores how patients and relatives undergoing genomic testing understand the ‘immortality’ of genomic data, focusing on how these understandings are shaped by: i) the simplicity of sample provision, ii) notions of heritability, and iii) views of genomic data as a collective resource. It considers how such understandings influence perceptions of ‘genetic responsibility’ to past, present, and future generations and argues for making data immortality more prominent in patient–professional interactions.

The paper situates its inquiry within existing debates about ethics in genomic medicine, highlighting challenges documented in the literature: complexities of obtaining informed consent that accommodates future reinterpretations; laboratory and clinical challenges in deciding when to reinterpret data and the downstream effects; tensions between confidentiality and familial duties of care; confusion over responsibilities for informing relatives; and governance issues around retention, access, and secondary use of genomic data. The authors draw on scholarship critiquing genetic exceptionalism and adopt ‘genomic contextualism,’ which recognizes that the salience of genomic information’s properties depends on context. Prior studies of broad and dynamic consent, reinterpretation practices, and familial risk disclosure inform the study’s framing of ‘genetic responsibility’ and the ethical preparedness needed in genomic medicine.

Design: Integration of findings from two qualitative studies within the Ethical Preparedness in Genomic Medicine (EPiG) programme: (1) a qualitative longitudinal study following experiences through genomic diagnostics; (2) a qualitative study on how and why genetic variants are accorded the status of ‘results.’ Sampling and participants: Purposive sampling to include individuals offered whole-genome sequencing (WGS) or, in a minority, targeted sequencing, for rare disease or cancer, and relatives linked to those tested. Participants included index cases (n=9), individuals tested to aid a relative’s diagnosis (n=10), and partners (n=3). Total pooled participants: 22; 12 took part in multiple in-depth interviews as part of the longitudinal component. Recruitment: Majority recruited via involvement in a study on experiences of the 100,000 Genomes Project (100KGP), where participants had completed a postal survey and indicated willingness for future research. Additional recruitment via the NHS Genomic Medicine Service and NHS genetics clinics; snowball sampling for significant others. Data generation: Semi-structured interviews capturing journeys through genomic diagnostics, understandings of genomic information, decisions, support, and life implications. Written consent obtained. Pre-pandemic interviews conducted in person (primarily in participants’ homes); from March 2020, interviews conducted via video or phone. Interviews lasted about one hour and were audio-recorded and transcribed verbatim; field notes were taken. Analysis: Initially analyzed separately, the theme ‘immortality of data’ emerged across projects. Researchers used collaborative, reflexive thematic analysis supported by NVivo (v12 Pro). Multiple readings by KL, RH, and CW with iterative revisions. Case analysis (Neale’s toolkit) provided holistic participant narratives, capturing implicit understandings of data’s enduring nature, familial transmission, and contributions to research. Ethics: Approved by NHS East Midlands – Nottingham 2 and NHS South Central Hampshire Research Ethics Committees. Data anonymized; pseudonyms used. An ethic of care guided the research.

- Participants often foregrounded the physical act of sample provision (e.g., a simple blood draw) and described it as minimally invasive or straightforward, which could obscure attention to the enduring nature and implications of the resulting data. Some conflated samples with data, focusing on bodily risk rather than informational risks and future reinterpretations. - Engagements with data immortality were commonly articulated through heritability and a sense of ‘genetic responsibility.’ Many valued testing primarily for implications for relatives (e.g., enabling reproductive decision-making, prenatal testing, or early identification of at-risk kin), sometimes extending responsibility to in-laws and distant relatives. - Not all participants recognized implications for relatives: some equated disease presence with genetic risk (e.g., if kin lacked current diagnosis, they assumed no relevance), leading either to nondisclosure or to relatives’ lack of engagement even when informed. - Participants understood genomic data as a collective resource, expressing altruism and a desire to contribute to wider patient communities and future research. Some framed participation as leaving a legacy, especially when facing serious illness. They recognized that effective interpretation depends on data sharing and aggregation across many contributors. - A minority explicitly acknowledged the evolving nature of analysis and reinterpretation over time, reinforcing the ‘immortality’ and future utility of stored data. Data points: 22 participants (12 with multiple interviews); roles included index cases (n=9), tested-to-aid-relative (n=10), partners (n=3).

The findings suggest that in patient experience, the property most distinguishing genomic testing from other investigations is the immortality and reinterpretability of data. When patients focus on sample-taking as a simple, low-risk procedure, they may underappreciate the breadth of possible findings, secondary implications, and familial ramifications, leaving them unprepared for uncertain or unexpected results. For those tested to support another’s diagnosis (e.g., parents), their personal involvement and potential findings may be overlooked. Conflating samples, tests, and results can fuel misunderstandings—such as interpreting a ‘no finding’ as absence of genetic causation rather than a limitation of current knowledge—leading to distress when later learning that a genetic cause may still exist but remains unidentified. Adopting a genomic contextualism lens, the authors argue that clinical interactions should emphasize data immortality and evolving interpretation to align expectations, clarify responsibilities for familial communication, and support consent processes. The themes of heritability and collective resource-use highlight broader notions of genetic responsibility extending to family networks and patient communities, underscoring the importance of data sharing for diagnosis and research advancement.

The immortality and evolving interpretability of genomic data should be explicitly addressed in clinical conversations to support ethically robust consent and realistic expectations. Practically, clinicians should consistently use ‘data’ rather than ‘sample’ in communications and clarify relationships between samples, tests, and results, distinguishing genomic testing from other blood tests. Discussing implications for relatives and for collective research can help patients appreciate the enduring nature of genomic data. As genomic medicine expands (e.g., NHS Genomic Medicine Service, Newborn Genomes Programme), emphasizing data immortality and its present and future implications becomes increasingly important. Further research is needed to explore the relevance of these findings beyond the UK context.

- Qualitative design with a relatively small sample (n=22) limits generalizability. - Majority of participants were recruited via involvement in the UK 100,000 Genomes Project and NHS services, which may shape perspectives. - Studies are ongoing; analyses reflect available interviews at the time and may evolve as more data accrue. - Findings are situated in the UK context; authors note the need for research to assess salience beyond the UK.