Implementation of clinical genomics: lessons learned

16 December 2014

A new study of early adopters of clinical genomics in the US has found common learning points from their experiences.

Interview-based research was carried out by a working group from the Personalized Health Care Committee of the College of American Pathologists, whose role is reportedly to look at the role of new technologies for molecular diagnostics and advise the College on policy to support implementation.

A total of thirteen healthcare institutions (one in Canada, the rest in the US) were asked why they had chosen to establish in-house next-generation sequencing (NGS), barriers, drivers and key lessons learned from the process. Writing in Genetics in Medicine, the study authors noted that there is currently little evidence for the cost-effective clinical utility of genome sequencing, so adopters did not know whether or not introduction would improve care or outcomes.

However, introduction of genomic cancer analysis to identify appropriate treatments and improve care proved to be the primary motivation for the introduction of genomic sequencing capacity, followed by earlier diagnoses within medical genetics. The other main reasons for introduction were said to be a ‘perceived need for institutional leadership in the field of genomics’ and the belief that genomics would in time become a cost-effective form of testing and financially self-sustaining. Providers also thought it would create better education of and interactions between clinicians in and out of the laboratory.

Barriers encountered were the costs (financial, time and effort), not least to introduce the supporting bioinformatics infrastructure needed but also a lack of internal expertise in informatics and technical sequencing delivery. Other problems cited were the difficulty of interpreting genetic variants and the medical, ethical, and legal issues around data storage and curation.

Overall, successful introduction of clinical genomics services was concluded to rest on close alignment with clinical programmes and institutional priorities. Almost all the hospitals felt that it gave them a competitive advantage.

In terms of lessons learned – potentially valuable for other institutions - key points of note were the need for:

  • Longer timescales and greater involvement of clinical stakeholders than expected
  • Alignment of new NGS testing with existing clinical strengths
  • Multidisciplinary advisory group to determine guidelines for offering testing

The authors conclude that the general priorities for the field are establishing metrics to measure patient and population outcomes and reporting findings. They also recommend more thought be given to governance, including patient representation ‘because genomic medicine not only cuts across technical practice and medical management but also invokes ethical and societal issues’