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Johnson & Johnson study reports the economic value of early genetic testing in inherited retinal dystrophies diagnosis.

A study from Johnson & Johnson Innovative Medicine, New Jersey, United States, report that patients with delayed genetic testing may incur significantly higher healthcare costs than those with early testing. As a result, the J&J findings suggest that, “early genetic testing will reduce the duration and costs for the diagnostic journey of patients with IRDs”.  While experimental treatments are progressing worldwide in the pipeline, there are significant benefits for patients to access support, counselling and education, not least of all to research options to contribute for both natural studies and up-coming clinical trials.

According to J&J, the company will debut first-of-its-kind EYE-RD Global Registry aimed to bridge knowledge gaps for inherited retinal diseases, “a first-of-its-kind observational, non-interventional global IRD registry created to make clinical information on IRDs more accessible to patients, providers, payers, and researchers”. The registry will serve as a centralized repository of longitudinal data collected on genetically tested patients who are diagnosed or have a suspected diagnosis of IRDs.  The company has proposed that genetic testing is a critical step for a confirmatory IRD diagnosis and “a lack of awareness and reimbursement for genetic testing prevent many patients from receiving genetic testing early, which results in delayed diagnosis or misdiagnosis of IRD”. A recent study performed a retrospective, observational, claims-based study to compare all-cause healthcare costs for early vs delayed genetic testing among patients with IRDs.

Results of their research showed a total of 536 patients were recruited with a mean (±SD) age of 55 years (±21.2) years.  There were 270 (50.4%) patients in the early testing group and 266 (49.6%) were in the delayed testing group [median time from index date to test date: 116 vs 805 days]. Following their analysis on the evaluation period, they reported that patients in the early testing group incurred mean total all-cause costs of $13,084 (SD ±30,912), 88.7%, of which were attributable to medical costs; while patients in the delayed testing group “incurred 5-times higher mean total all-cause costs of $76,838 (SD ±116,372), of which 82.9% were due to medical services.  This demonstrated a difference of $63,754.  The company commented that, “most spending was for medical services, like visiting doctors. In summary, early genetic testing may be beneficial to help improve diagnosis of IRDs and lower overall healthcare costs”.