Why might I refer a patient to the Smith Family Clinic for Genomic Medicine at HudsonAlpha?
Your patient 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, whole genome sequencing may be a useful tool to find the answer. Using this new technology to achieve a diagnosis is the focus of the Smith Family Clinic for Genomic Medicine.
What types of patients would benefit from whole genome sequencing?
We have found that testing is useful for patients with rare inherited disorders or with complex clinical presentations lacking a clear diagnosis. The following criteria can help the provider select cases:
- Patient under consideration should be evaluated by physicians with expertise in the patient’s condition to help the laboratory correlate the patient’s phenotype and family history with the genotype derived from sequencing.
- The ordering physician should confirm that the patient has had the current standard diagnostic testing used to evaluate that patient’s phenotype to ensure that a cost-effective approach has been taken to diagnosis.
- The provider should choose patients with an apparently undiagnosed monogenic genetic disorder ideally with a rare or distinctive phenotype, or with a positive family history of multiple affected individuals.
- In order to secure insurance pre-authorization, the provider should focus on cases where a molecular diagnosis could help physicians/families with medical decision making/management such as treatment and family planning. This reasoning should be part of the physician note where testing is recommended.
- Care should be exercised to select cases where appropriate samples are available to carry out initial genomic sequencing as well as follow-on testing including confirmatory functional assays in the patient and segregation analysis of variants in the parents and other family members.
Genetic information to share with your patients?
Our genetic counselors have put this slideshow together to help you discuss genetic information with your patient: Genomics and Your Patients.
How do I refer a patient to the Smith Family Clinic for Genomic Medicine?
Click the button “contact us” and fill out your information. The information will be sent to our Operations Administrator who will contact you.
A patient referral may also be faxed to our clinic at 256-327-9699.
Please include name and contact information for both the referring physician and the potential patient as well as the primary indication for referral.