Finding Answers in Your DNA
Using whole genome sequencing to uncover undiagnosed disease and unlock the secrets of your genome.
The Smith Family Clinic for Genomic Medicine has been established to use whole genome sequencing to diagnose rare, undiagnosed and misdiagnosed disease. Patients will be seen by a clinical geneticist who will evaluate symptoms, or patient phenotype, and determine whether whole genome sequencing is an appropriate test. The data from the genomic sequence is then interpreted clinically to identify variants, or changes in the DNA, linked to the disease.
Whole Genome Sequencing for Undiagnosed Disease
Millions of people are struggling with an undiagnosed or misdiagnosed disease. The Smith Family Clinic for Genomic Medicine was established to use the human blueprint—your DNA—to provide answers to those patients.
Through a new technology called whole genome sequencing, we can read your DNA and often make a diagnosis where other tests could not.
New insights. Whole genome sequencing also can be used to paint a more complete picture of someone’s current and future health. Interested in learning more about our Insight Genome.
Who are our patients?
The Smith Family Clinic for Genomic Medicine sees patients who…
• Have a disease with no definitive diagnosis
• Have a diagnosis that doesn’t quite “fit”
• Have had extensive tests already
• Want to end the search for answers
What types of diseases can you diagnose?
Genetic diseases can be inherited, even though no one else in the family have the same symptoms. Also, sometimes genetic changes “just happen” in nature, and those changes can lead to genetic conditions.
At the Smith Family Clinic, we offer the best test first, whole genome sequencing, which paints a full picture of your DNA and offers the best chance at ending your journey for a diagnosis.
Some of the more common symptoms seen in patients at the Smith Family Clinic include, but aren’t limited to:
• Unexplained developmental delay
• Failure to thrive
• Neurological (seizures, intractable epilepsy, poor muscle tone/strength)
• Digestive issues
• Other unexplained abnormalities (extra finger, missing teeth, abnormal head shape or size, skin abnormalities)
• Unexplained heart abnormalities or disease
MISSION AND VISION
By using the power of genomics, we can solve cases of undiagnosed disease and provide answers to families and physicians. The clinic’s mission is not only to help find answers, but also to give patients the best clinical care and a positive medical experience.
The vision for genomic medicine is for whole genome sequencing to become an increasingly valuable tool not only for diagnosis but also for prediction and prevention of disease.
The Smith Family Clinic is located on the campus of HudsonAlpha Institute for Biotechnology. Note that HudsonAlpha is a tobacco-free campus and the Smith Family Clinic for Genomic Medicine is also tobacco-free.