Finding relatives with heart disease takes nearly two years, study shows
A Swedish analysis of heart disease screening found that identifying at-risk family members took an average of 643 days, with nearly a quarter of investigations incomplete. The delays highlight a gap between ideal clinical practice and real-world implementation—a pattern likely affecting patient outcomes and raising questions about how healthcare systems resource genetic testing programs.
Originaltitel: Genetic analysis and family screening for dilated cardiomyopathy: a retrospective analysis of the stepwise pedigree approach
<p>Aims: This study aimed to assess the practicality of using a stepwise pedigree-based approach to differentiate between familial and sporadic Dilated Cardiomyopathy (DCM), while also considering timing of the genetic analysis. The analysis includes an examination of the extent to which complete family investigations were conducted in real-world scenarios as well as the length of the investigation.</p><p>Methods: The stepwise pedigree approach involved conducting a comprehensive family history spanning 3 to 4 generations, reviewing medical records of relatives, and conducting clinical screening using echocardiography and electrocardiogram on first-degree relatives. Familial DCM was diagnosed when at least 2 family members were found to have DCM, and genetic analysis was considered as an option. This study involved a manual review of all DCM investigations conducted at the Centre of Cardiovascular Genetics at Umeå University Hospital, where the stepwise pedigree approach has been employed since 2007.</p><p>Results: The investigation process had a mean duration of 643 days (95% CI 560.5–724.9). Of the investigations preformed, 94 (68%) were complete, 12 (9%) were ongoing, and 33 (24%) were prematurely terminated and thus incomplete. At the conclusion of the investigations, 55 cases (43%) were classified as familial DCM, 50 (39%) as sporadic DCM, and 22 (18%) remained unassessed due to incomplete pedigrees. Among the familial cases, genetic verification was achieved in 40%.</p><p>Conclusion: The stepwise pedigree approach is time consuming, and the investigations are often incomplete which may suggest that a more direct approach to genetic analysis, may be warranted.</p>