Clinical whole genome sequencing is designed to determine the entire genetic makeup of an individual by sequencing all of their DNA. Some changes in DNA sequence impact the development of symptoms and disease. Armed with this information, physicians can make diagnoses and choose appropriate treatments for patients.

There are currently 73 genes that the ACMG recognizes as being associated with either a hereditary form of cardiovascular disease or cancer risk. An individual who has a change in one of these genes can work with their healthcare provider to make a plan for reducing disease risk through medical and lifestyle changes.

Genetic testing for cardiovascular diseases may help patients and their families make well-informed decisions about managing their heart health. Cardiovascular conditions that are believed to have an inherited genetic component include cardiomyopathies, arrhythmias, and familial hypercholesterolemia.

Cancer genetic testing looks for inherited gene mutations that might put a person at a higher risk of getting certain kinds of cancer. Information about your cancer risk can help inform early screening and prevention steps. Genetic screening of tumors can also improve patient outcomes by informing physicians of the appropriate treatment for that specific tumor.

Pharmacogenomic testing provides information about many different genes and how they impact your body’s response to over one hundred drugs. For example, DNA variants can show that you need a higher or lower dose of a certain drug or that a different drug should be used instead. Pharmacogenomic testing can help healthcare providers make more informed decisions about your medications.

Any adult may elect to have their whole genome sequenced to gain a better understanding of current medical problems, gain information about future disease risk to guide preventative healthcare decisions, fill in gaps in family history, or provide information to relatives and future generations.

Genomic Testing

Clinical genome sequencing could benefit patients whose clinical presentations have defied diagnosis, or for whom a diagnosis doesn’t completely “fit” the symptoms or manifestation of the disease, and for which the cause appears genetic in origin. These patients will typically have seen a number of specialists and current therapies are unsuccessful in alleviating symptoms or providing a significant improvement in health.

Genetic Counseling

Genetic counseling is the process of helping individuals understand how genetic information relates to human health and disease risk. HudsonAlpha’s genetic counselors provide a critical service to individuals and families undergoing genetic testing by investigating the family history and interpreting the information gathered from both risk assessments and the genetic testing process itself.

Rare and Undiagnosed Disease Clinic

The Smith Family Clinic for Genomic Medicine, LLC., was established to diagnose patients with undiagnosed and misdiagnosed diseases. Patients or participants may have a medical condition that has eluded diagnosis despite considerable effort, and you believe that this condition may have an underlying genetic cause. In some cases, genetic testing may be a useful tool to find the answer.