Addressing Unmet Needs for Specific Patient Groups

WGS is especially helpful to provide faster answers for patients with immature phenotypes or those with heterogeneous symptoms. The purpose of using WGS is to limit the anchoring bias of a phenotype-based approach to diagnosis.

WGS may be considered clinically useful when:

Non-Specific PhenotypeThe patient’s phenotype does not clearly identify a specific disease with an established single-gene or multigene panel, or the patient has phenotypic characteristics outside of, or in addition to, what has been established for the disease.
Increased Diagnostic YieldA definitive diagnosis cannot be made based on standard clinical workup.

Diagnostic Yield – the likelihood that a test or procedure will provide the information needed to establish a diagnosis.

Improved Clinical UtilityA definitive diagnosis may have clinical utility (improvement in net health outcomes); for example, change in clinical management or surveillance, end of clinical workup or change in reproductive decision making for parents.

Rare Disease Patient Stories

The patient stories are from individuals and patient advocates that engage with Illumina. The Illumina Global Patient Advocacy team works with patients, families, and the groups that represent them in order to build evidence and advocate for the positive impact of genomics utilization. Their stories are a testimonial of the potential impacts and benefits genomics can have on disease. One person’s experience is not predictive of results in all disease cases, which may differ based on a variety of factors. Results in other cases may vary.

Ending Carson & Chase’s 6-Year Diagnostic Odyssey

Carson was initially diagnosed with cerebral palsy, but his brother, Chase, proved that to be a misdiagnosis. After four more years, whole-genome sequencing helped diagnose Carson and Chase definitively with mitochondrial enoyl CoA reductase protein-associated neurodegeneration (MEPAN).

Watch Video

A Diagnosis for Donovan

The list of Donovan’s symptoms raised suspicion of more than 20 different conditions and aligned with nearly a dozen medical specialties. After 6 years, whole-genome sequencing identified a variant in the SKI gene, and Donovan was diagnosed with Shprintzen-Goldberg syndrome.

Watch Video

Ending Sophia’s 10-Year Diagnostic Odyssey

After seven years, dozens of specialists, dozens of genetic tests and MRIs, Sophia and her family were exhausted and without a diagnosis. They needed two years to recharge before re-engaging to end their diagnostic odyssey. During this time WGS became available and enabled Sophia’s medical team to identify a WDR45 variant and diagnose Sophia with Beta-propeller protein-associated neurodegeneration (BPAN).

Watch Video

Ending Sawyer’s 8-Year Diagnostic Odyssey

Sawyer’s journey to a diagnosis began in utero. Admitted at birth to the NICU, Sawyer has been resilient in the face of multiple misdiagnoses, multiple specialists and many uninformative tests. Following normal exome sequencing, Sawyer was accepted by the Undiagnosed Diseases Network, where whole genome sequencing finally ended the 8 year search for an answer, identifying a variant in TRIP12 (Thyroid Hormone Receptor Interactor 12).

Watch Video

Thoughts From Our Champions

From Physicians and Geneticists to Laboratory Directors, we share their views and perspective of integrating Whole-Genome Sequencing in the diagnostic workup for patients with rare disease.