Study: Genome sequencing may not drive up downstream healthcare costs

Genome sequencing may not lead to higher healthcare costs later on, according to a study published by Genetics in Medicine.

The study — led by Kurt Christensen, PhD, of the department of medicine at Boston-based Brigham and Women's Hospital — involved 100 healthy primary care patients and 100 cardiology patients with cardiomyopathy. Study staff randomly gave patients a family history report alone or family history report with a whole-genome sequencing analysis. Cardiology patients also reviewed their prior genetic test results.

Researchers determined the cost of genome testing by tracking personnel effort and resource use. To project downstream costs, the team tracked patients for six months and assessed services documented in administrative data, medical records and patient surveys.

Researchers found mean healthcare costs were similar for those who had the genome testing and family history report alone in cardiology settings and primary care settings. The average costs among cardiology patients were $1,560 lower for those who received genome testing compared to those who received a family history report alone when hospitalizations were factored into the analysis.

When excluding hospitalizations, average costs for those who received genome testing were $700 higher. When including hospitalizations, researchers found the average healthcare cost in primary care settings were $681 higher for those who received genome testing compared with those who received a family history report alone.

"Short-term costs of [whole-genome sequencing] were driven by the costs of sequencing and interpretation rather than downstream healthcare," concluded the study's authors. "Disclosing additional types of secondary findings has a limited cost impact following disclosure."


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