Information arrives before meaning
A genome contains inherited information. A report contains an interpretation of selected parts of that information. The two are not the same, and the interpretation may change as knowledge improves.
This is part of the promise of personalized medicine. It is also why a detailed report should not be mistaken for a complete account of a person's future. Family history, current health, environment, and the limitations of the measurement remain relevant.
What a pilot trial found
The MedSeq pilot randomized 100 generally healthy adults to a family-history report alone or a report supplemented by interpreted whole-genome sequencing. Sequencing produced additional molecular findings and prompted more clinical actions, but the study did not establish that those extra actions improved long-term health. It had limited size and ancestral and socioeconomic diversity. [1]
This makes an important distinction visible: finding more can change care without yet proving that the change is beneficial.
Keep the kind of result clear
A variant associated with a high-risk inherited disorder, a carrier result, a pharmacogenomic association, and a polygenic risk estimate answer different questions. A variant of uncertain significance carries uncertainty in its name for a reason.
Likewise, a consumer raw-data file and a clinically validated sequencing result should not be treated as equivalent inputs. Consequential decisions may require confirmation and appropriate genetics expertise. The report's source, test method, and intended use matter.
A useful relationship with uncertainty
A good process can state what is known, what remains uncertain, what action is justified, and what would warrant reinterpretation later. It should also respect the person's choices about learning and sharing information that may have implications for relatives.
The title of this booklet points to two kinds of change. Our understanding of inherited information changes, and the life in which that information is expressed continues to unfold. Neither process grants complete control.
The value of genomics will be measured by the decisions it helps people make and the outcomes those decisions improve. More personal detail is valuable when it leads to more useful care, with uncertainty carried honestly along the way.
Sources & reading scope
- Jason L Vassy, Kurt D Christensen, Erica F Schonman, et al. The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Annals of internal medicine. 2017 Aug 01;167(3):159-169. doi:10.7326/M17-0188. PMID:28654958.
Primary publication record and abstract consulted; not a comprehensive full-text appraisal.