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Stanford Clinical Genomics Service:

A collaboration between Stanford Hospital & Clinics
and Lucile Packard Children's Hospital Stanford

Stanford Clinical Genomics

Stanford Clinical Genomics

The Clinical Genomics Service at Stanford Hospital & Clinics (SHC) and Lucile Packard Children's Hospital Stanford (LPCH) aims to leverage the deep repository of knowledge and expertise in genome sequencing analysis and interpretation at Stanford University Medical Center (SUMC), to ultimately improve the care of our patients and their families.

Over the past several years, genome sequencing has demonstrated great promise, particularly in cases of rare diseases, where a patient and his or her family may have a genetic condition that thus far has eluded diagnosis. Already, hundreds of families with genetic diseases have benefited from the power of this technology to discover the underlying cause of their condition. In some cases, identifying a genetic cause of disease may also provide important information related to personalized therapy and management.

At this time, the Clinical Genomics Service at Stanford will serve as a resource to both healthcare providers and patients, to conduct genome sequencing in selected individuals who have an undiagnosed or rare condition that is believed to be genetic. We will take referrals from health care providers specializing in heritable disorders at SHC and LPCH. The team will then select the initial cases for sequencing through the Clinical Genomics Service.

For this initial pilot phase of the Clinical Genomics Service, selected patients will be consented under a research IRB protocol. Genomic testing during the pilot will focus on patients with “mystery” diseases (typically children), patients with suspected heritable cancer syndromes, patients with inherited cardiovascular or neurological disease, and those with severe, unexplained drug reactions.

In the future, we plan to expand the program to offer tumor and germline sequencing to selected patients with cancer, when typical treatment options have not been successful.

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