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Sequencing the human genome was one of the major scientific achievements of the last 50 years. Now, this technology has transformed the way we approach and diagnose genetic disease. The Clinical Genomics Service at Stanford Medicine brings the power of genomic sequencing into the hands of our physicians and with it, the knowledge into the hands of our patients. At Stanford, we apply advanced genomic sequencing and expert interpretation to provide more personalized and precise clinical care.
Care and Treatment
Frequently Asked Questions (FAQs)
What is clinical genomics?
"Clinical genomics" uses direct information about DNA, RNA, or downstream products (e.g., proteomics, metabolomics, etc.) from an individual as part of their clinical care.
Genomic testing is routinely applied to assist in the diagnosis of certain patients with suspected heritable disease, and as a prenatal screening test for fetal chromosomal abnormalities in the prenatal setting. In cancer patients, genomic testing for acquired (tumor-specific) genetic changes is increasingly being used to assist with diagnosis, prognostication, selection of therapy, monitoring therapeutic response, or screening.
Why did Stanford start a clinical genomics service?
Stanford has a deep repository of genomic information, significant practical experience in genome sequencing analysis and interpretation, and extensive expertise in clinical genetic testing. The clinical genomics service is intended to leverage these strengths to provide accurate and responsible delivery of this knowledge directly to patients.
Who has been involved in the development of Stanford's clinical genomics service?
The clinical genomics service is the product of two years of discussion among over 40 representatives from Stanford Children’s Health, Stanford Health Care, Stanford University School of Medicine, and the greater Stanford University community. The service is co-directed by Euan Ashley, MCRP, DPhil and Jason Merker, MD, PhD. The Stanford Medicine Advisory Committee on Genomics, which includes representatives from pathology, medicine (hematology, oncology and cardiovascular medicine), pediatrics, and obstetrics/gynecology, as well as the Stanford Cancer Institute, Stanford Center for Biomedical Ethics, and the Stanford Center for Genomics and Personalized Medicine, will support the new service.
How will Stanford's CGS serve patients and physicians?
The goal of the service is to responsibly apply clinical genomic information to provide more personalized and precise clinical care. The Clinical Genomics Service launched a research pilot program to allow test development and validation of clinical genome sequencing. Participant recruitment began in January 2014, and initial patients fall into one of the following groups:
Pediatric patients with findings suggestive of a potential genetic cause
Patients with unexplained hereditary cancer risk
Adults patients with suspected inherited cardiovascular or neurologic diseases
Patients with unexplained drug reactions in multiple family members
Will Stanford provide genetic counseling?
Yes. Stanford has genetic counselors in various clinical settings at both SHC and SCH. Genetic counselors specialized in clinical genomics are also a key part of the clinical genomics service.
How will Stanford ensure the safe and appropriate use of clinical genomic testing?
This new service in clinical genomics is closely integrated with the broad range of other clinical genetic testing currently being offered by Stanford Anatomic Pathology & Clinical Laboratories for patients at SHC and SCH, which includes programs in Molecular Genetic Pathology, Cytogenetics, and Clinical Biochemical Genetics. These existing programs have an outstanding record of compliance with the extensive regulatory requirements pertaining to diagnostic genetic testing and have intensive quality management programs in place; the CGS continues to apply these rigorous standards.
The new service uses an integrated approach that includes professional genetic counseling, advanced genome sequencing and analysis, and expert interpretation by molecular genetic pathologists and other physicians with expertise in this emerging and complex field. The service is supported by the Stanford Medicine Advisory Committee on Genomics, and holds collaborative genome interpretation meetings with the referring clinical team and disease experts for each case. Although we are currently in the test development phase, the intent will be to offer a clinical genome test that can be ordered by SHC and SCH healthcare providers in the future.
What makes Stanford's service different from that of others, both private and academic?
Stanford has long played a leadership role in the rapidly evolving field of genomics, providing a strong foundation for the clinical genomics service. Stanford's CGS will be supported by a large and multidisciplinary team, whose experience helped to first demonstrate the use of this technology in patient care. The service is also supported and advised by the Stanford Medicine Advisory Committee on Genomics comprised of expert representatives from many clinical services. This service will integrate Stanford's unique genomics, bioinformatics, and diagnostic expertise to advance patient care.
Can patients come in for genomic testing on their own?
No. In this initial pilot phase of the service, genome sequencing will be conducted only on those patients referred by health care providers specializing in genetics at Stanford Health Care and Stanford Children’s Health. There are plans for future expansion of this service; however, like other clinical tests, this test must be ordered by physician or other appropriate healthcare provider.
Will Stanford offer mail order testing?
No. The Clinical Genomics Service will not be directly available to the general public.
How can a physician access Stanford's clinical genomics service?
How can I support Stanford's Clinical Genomics Program?
Gifts to the Stanford Clinical Genomics Program may be made as either expendable or endowed funds. Securities may be transferred to Stanford, and individuals can receive a charitable tax deduction and avoid capital gains taxes. A variety of planned gifts with special tax implications may also be considered. Learn more »
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Fax a referral form with supporting documentation to 650-320-9443.
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