What’s the point of sequencing poorer patients with suspected rare diseases if they can’t get top notch care afterwards? That’s a question that has dogged health care for a while. Now iHope, a philanthropic initiative, has data that provides resounding support for such efforts. Even if people are not wealthy their care management may change in about 40% of cases after sequencing, the team found. They even noted several profound instances of changes in management in low- and middle-income countries countries, including a child with spinal muscular atrophy who was able to get access to Spinraza (Biogen’s nusinersen).
More access to sequencing, even in poorer countries, could thus help reduce health disparities, since it’s estimated that around the globe there are at least 260 million individuals affected by rare diseases, the vast majority of which are genetic in origin and undiagnosed.
The iHope team’s results were published in The American Journal of Human Genetics on June 11, 2024. The lead author is Erin Thorpe and the senior author is Ryan J. Taft, both of Illumina.
iHope is a program of the nonprofit Genetic Alliance that offers access to clinical genome sequencing and other genomic diagnostic tests to patients with suspected pediatric-onset rare genetic disease regardless of their social status, income, or geographic location.
Evidence of the value of clinical genome sequencing in individuals with suspected rare genetic disease (RGD) is mounting. But until now the performance and impact on clinical care in a diverse population including both high-income countries and low- and middle-income countries (LMICs) has not been investigated.
For this study, the team established a network of 24 clinical sites in eight countries through which it provided sequencing to individuals with signs or symptoms of an RGD and some access to molecular testing. A total of 1,004 individuals (median age, 6.5 years; 53.5% male) with diverse ancestral backgrounds (51.8% non-majority European) were assessed from June 2016 to September 2021.
The diagnostic yield of cGS was 41.4% (416/1,004), with individuals from LMIC sites 1.7 times more likely to receive a positive test result compared to HIC sites. A change in diagnostic evaluation occurred in 76.9% (514/668) of individuals. Change of management, inclusive of specialty referrals, imaging and testing, therapeutic interventions, and palliative care, was reported in 41.4% (285/694) of individuals, which increased to 69.2% (480/694) when genetic counseling and avoidance of additional testing were also included.
Individuals from LMIC sites were as likely as their HIC counterparts to experience a change in diagnostic evaluation. Increased access to genomic testing may support diagnostic equity and the reduction of global health care disparities.
There have been some concern that providing clinical genomic testing in low- and middle-income communities may be inappropriate because “nothing can be done for these patients” even if they receive a molecular diagnosis. This data shows that LMIC patients are just as likely to have a change in management as their high-income counterparts, although the extent of care may differ.
Overall, this group of authors, which spans all of the clinical sites engaged in the program, have endorsed the concluding statement that “widespread availability of genomic testing may reduce health disparities” in LMICs.
