Step-by-step Guide

Becoming a Patient
at The Smith Family Clinic for Genomic Medicine

To become a patient at The Smith Family Clinic for Genomic Medicine, you need to be referred by your physician, or you can contact us directly to begin the intake process. Before an initial appointment is set, we will gather information on your medical history over the phone, and that information will be reviewed by our clinical team. Once the information is reviewed, you will be contacted by our staff to set an appointment.

During your appointment, you will be seen by a clinical geneticist who will evaluate your symptoms and medical history, and take a blood sample for testing. The sample will be analyzed and interpreted, and the results will be sent back to your referring physician.

Talk to your doctor about whole genome sequencing for a more precise diagnosis and targeted treatment. Contact us at The Smith Family Clinic for Genomic Medicine for more information today.

  1. INITIAL CONTACT – Potential patients can contact the clinic directly via phone by calling 256.327.9640 or emailing info@smithfamilyclinic.org. Please see The Smith Family Clinic for Genomic Medicine Website Privacy Policies & Terms of Use. Genome Gateway patient portal is the only approved and completely secure messaging system for the Clinic providers.
  2. PRIVACY Please see the Notice of Privacy Practices or the Spanish version of the Spanish Notice of Privacy Practices.
  3. PATIENT ENROLLMENT  Potential patients will receive an electronic invitation to enroll in The Smith Family Clinic for Genomic Medicine’s patient portal (called the Genome Gateway). The portal can be accessed through the “patient login” button at the top of this page.
  4. RECORD REVIEW Information and prior medical records will be reviewed by the clinic team prior to scheduling an appointment for clinical evaluation.
  5. NOTIFICATION OF APPOINTMENT STATUS Patients who are good candidates for for evaluation and genome sequencing through The Smith Family Clinic for Genomic Medicine will be contacted to schedule an appointment.  If a clinic appointment is not determined to be the most appropriate next step in evaluation, a clinic staff member will contact the individual or individual’s physician and provide an explanation.
  6. CLINIC VISIT A first appointment date is set by The Smith Family Clinic for Genomic Medicine and patient. A typical visit to the clinic will include review of medical, developmental, and family histories, physical examination, assessment by a medical geneticist and genomic counselor and discussion of testing options. If genome sequencing or other testing is recommended, blood samples may be drawn at the time of the visit. The patient will leave with a follow-up appointment and can access the patient portal at anytime in the process.

How does the laboratory get answers from my DNA?

In order to use whole genome sequencing to make a diagnosis, the laboratory needs DNA from the patient as well as information from the patient’s physician about his or her medical condition.  A blood sample is the most common source of DNA.

Once the DNA is obtained, it is prepared in a special way and put into the sequencing machine. Because of the complexity of sequencing and the amount of information studied, the machine runs for several days. The data comes out of the machine as short pieces of DNA sequence called reads. A computer takes these reads and maps them, creating a picture of the individual’s genome. Once the genome picture is assembled, another program looks for differences in the DNA, or variants, that may be causing the medical condition.

A team of specially trained scientists and physicians in the laboratory review the medical information along with these variants to try to connect the patient’s medical condition to one or more variants.  When the laboratory concludes that a particular DNA change is connected to the patient’s disease, it is confirmed with an additional test before the report is issued to the ordering physician. Because of the complexity of the entire process, a final report from whole genome sequencing can take up to 3 months to complete.

At present, the laboratory finds an answer in about 25% of cases in which whole genome sequencing is performed.  For the cases without a diagnosis, the stored sequence data can be re-analyzed at the request of the patient’s physician.