Clinical whole-genome sequencing is intended to provide information to physicians to aid in the diagnosis of inherited diseases, and to try to identify the underlying cause of a genetic condition. This test is most appropriate for situations where the evaluation of multiple genes may clarify or refine the diagnosis, a situation that can occur when the presenting set of symptoms and tests are inconclusive, there are many candidate genes to evaluate, or physicians believe that the patient may have multiple genetic conditions.
Through whole-genome sequencing, the iHope Network and their respective clinical partners strive to end years-long diagnostic odysseys. These odysseys average seven years in length and include multiple inconclusive tests, surgeries and procedures, many of which do not result in answers or treatment options for these children and their families.
“Understanding the scope and size of the population affected by rare diseases, we have a moral imperative to increase the visibility of this global health problem and help find solutions for the children and families who are suffering.”
The iHope Network members have committed to a minimum philanthropic donation of 10 whole genome tests per year (10 patients). Additionally, iHope Network organizations have agreed to donate the variants identified through iHope to public databases, like Clinvar, which are freely accessible, public archives of reports of the relationships among human variations and their related symptoms or diseases. By doing so, the public wealth of knowledge will continue to grow and provide benefit to many more patients who depend on the precision of genomic medicine.
With precision medicine and large-scale genomic initiatives being launched across the globe, genomics is reaching an inflection point in public awareness. The iHope program aims to build on that public awareness by demonstrating how next-generation sequencing can create a significant impact – by helping undiagnosed patients and their families find long sought-after answers.