Failure to follow up on a medically actionable finding from direct to consumer genetic testing: A case report

Abstract

Background A 61‐year‐old woman underwent direct to consumer genetic testing and was found to be homozygous for the C282Y HFE variant (c.845G>A :p.Cys282Tyr) which is classified as pathogenic/likely pathogenic for hereditary hemochromatosis. However, no action was taken by the individual. Methods The individual took part in the Mayo Clinic Return of Actionable Variants Empiric (RAVE) study and the actionable finding was confirmed and results disclosed in person by a genetic counselor with subsequent referral to a hepatologist. Results Further testing revealed iron overload with an elevated ferritin level (560 ng/ml) and increased ferritin saturation (74%). Phlebotomy was initiated with subsequent normalization of the ferritin levels (252 ng/ml). Conclusion This case highlights that actionable genetic results may not be acted on after direct to consumer testing and the need for effective genetic counseling after such testing.

Direct‐to‐consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services

“…Twenty‐five studies used quantitative methods, 18–42 seven qualitative methods, 43–49 and three mixed methods 50–52 . There were eight case studies, 53–60 reporting on 12 individual cases. The majority of studies (72.1%) were conducted in the United States, 18,20–33,35–38,40–42,46–48,50,52,55,56,58,60 others were from Australia (11.6%), 34,39,49,51,57 Europe (4.7%), 44,45 and a single paper each from Canada, 59 France, 54 Italy, 19 Spain 53 and the United Kingdom 43 .…”

“…There were eight case studies, 53–60 reporting on 12 individual cases. The majority of studies (72.1%) were conducted in the United States, 18,20–33,35–38,40–42,46–48,50,52,55,56,58,60 others were from Australia (11.6%), 34,39,49,51,57 Europe (4.7%), 44,45 and a single paper each from Canada, 59 France, 54 Italy, 19 Spain 53 and the United Kingdom 43 . Eighteen papers presented data from one of three larger studies: Impact of Personal Genomics (PGen) used longitudinal surveys with a cohort of 1648 consumers who had purchased 23andme (SNP array) or Pathway Genomics (undisclosed product); Scripps Genomic Health Initiative (SGHI) studied 2037 consumers who purchased “Health Compass”, a subsidised DTC‐GT produced by Navigenics, which provided genetic risk information for common diseases and offered in‐house genetic counselling; and Genomics: National Insights of Australians (Genioz) explored the views and experiences of the Australian public regarding DTC‐GT and includes surveys and consumer interviews.…”

“…53% of 85 genetic counsellors had been contacted after consumer use of TPI, of which half saw at least one patient 50 . Consultations with genetic HCP following TPI are also reported in case studies, including ‘true positive’ results, highlighting the role of genetic counsellor involvement in enhancing individuals' understanding of the implications of results and engagement with appropriate healthcare 55,56,58 . Among genetic counsellors who had discussed DTC‐GT results in a clinical setting ( n = 221), 31% felt negative about the encounter/s due to ‘not the best use of clinical time’ and uncertainty about result interpretation; 25% felt positive 28 .…”

“…Whilst DTC‐GT may increase access to genetic testing, other components of the clinical pathway–consumer understanding, assimilation, and access to downstream healthcare–may require HCP input 48,55,56 . Individuals from ethnic minority groups were less likely to speak with a HCP about abnormal DTC‐GT results 25 .…”

“…The generally high consumer satisfaction with DTC‐GT and TPI 18,27,39,42,46,47,49,52 perceived validity, 48,50 and personal utility 18,38,49 of DTC‐GT and TPI contrasts with many HCP experiences 28,43,50,54–56,58–60 . Opposing perspectives can lead to challenging or unsatisfactory clinical encounters for patients and HCP.…”