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Clinician FAQs

The Insight Genome is whole genome sequencing for the purposes of providing patients with a comprehensive picture of their genetic disease risk and responses to specific medications. The Insight Genome begins with a physician-ordered laboratory test that looks at 1600+ genes associated with more than 1200 medical conditions, including cancer and rare diseases such as ALS and cystic fibrosis.

It also evaluates genes linked to response to specific medication response (pharmacogenomics).

For example, there is a gene (CYP2C9) linked to the efficacy of Warfarin (coumadin), an anticoagulant medication. For some patients, a variant in that gene means Warfarin will not be effective. The Insight Genome provides information pertaining to specific medications that has clinical utility for prescribing clinicians.
Whole genome sequencing (WGS) is a new test that is entering routine clinical practice. The test is designed to determine the entire genetic makeup of an individual by sequencing the entire genome. This test is ushering in the era of personalized medicine. WGS identifies several million variants in an individual that differ from the reference genome. Most of these variants are benign, but a small number of variants are pathogenic. The effect on human health of a large number of variants has not been established, so they are referred to as variants of uncertain significance. Current knowledge as it is used to make these interpretations differs depending on the gene containing the variant and the type of variant involved. Some genes are well known to us, while others have not been as well studied. At present, about a quarter of genes have been connected to human disease. Over time we will connect more and more of the remaining genes to disease. Those new discoveries are why periodic reanalysis of a patient with a ‘negative’ WGS result is valuable. The HudsonAlpha Clinical Services Lab, LLC, will be the sequencing lab for The Smith Family Clinic for Genomic Medicine. Through the Genome Gateway, families should provide the laboratory with information from the patient’s medical record, including history, family history, examination and laboratory tests. The ability of the laboratory to accurately assess a patient’s genome is dependent on the quality of the clinical information that is provided. In the process of analyzing a genome, the laboratory may identify an incidental finding, which is a pathogenic variant that is not connected to the patient’s phenotype. For example, an analysis of a child with a seizure disorder may uncover a pathogenic variant in BRCA1, a gene associated with hereditary breast cancer. Families should be aware that WGS may uncover incidental findings and that test results may have a bearing on a number of family members. The Smith Family Clinic’s physicians and genetic counselors will discuss with patients and their families whether their family wishes to have incidental findings returned. There is no such thing as a perfect genetic test, and although genome sequencing is detailed, it cannot detect all types of genetic variation. For example, trinucleotide repeat disease including fragile X syndrome, Huntington disease, a variety of ataxia and others are not well assessed by WGS. A negative result on a genome sequencing test does not rule out the possibility of a genetic condition. To reach the HudsonAlpha Clinical Services Lab, LLC., directly, call 256.327.0438 or visit www.clinicallab.org
Whole genome sequencing is designed to determine the entire genetic makeup of an individual by sequencing all their DNA -- three billion letters long. That genetic code is then analyzed to identify variants, or changes in the DNA, that signify disease risk or other conditions or traits. An average human has between four and six million variants in his/her genome.
Any adult may participate in the Insight Genome. Potential reasons patients may consider the Insight Genome include, but are not limited to:

  • Individuals seeking to augment existing but sparse family health history
  • Individuals seeking additional information to guide preventive care decisions
  • Individuals interested in personalized medicine and genomics
  • Adult adoptees with limited or no documented family health history
The cost of the Insight Genome is approximately $7000 which includes the clinical whole genome and pharmacogenomics tests, and physician and genetic counselor visits and consultations at the Smith Family Clinic for Genomic Medicine.
The Insight Genome is patient-pay.
The Insight Genome is comprised of two clinical tests and thus must be ordered by a physician. Right now, we are only offering the Insight Genome through the Smith Family Clinic for Genomic Medicine. The patients will have two visits to the clinic; the first is for the initial consultation and to draw blood and saliva samples for testing. In the second visit, the test results will be returned. The reports become part of the patient’s medical record. Those reports will contain useful information about the patient’s heritable disease risk (for known pathogenic variants) and pharmacogenomic information. Test reports may be provided to patients’ physicians at their request.
The turnaround time for the Insight Genome is approximately 90 days.
Genetic counseling is important to understand the information provided through the Insight Genome test. Most variants identified are not determinative (meaning you will get a disease) but indicate a risk. That risk can be explained through genetic counseling.

It’s important to note that due to the nature of genetic testing, the patient is not the only individual potentially affected by findings. Genomic findings may potentially impact family members, because genetic variants by their nature run in families. It may be helpful to recommend patients considering the Insight Genome have pre-test discussions with family members to ascertain what, if any, information they want disclosed-- and what you may be willing to disclose.
The Genetic Information Nondiscrimination Act of 2008 (GINA) protects individuals from having their genetic information used against them when obtaining employment or health insurance. Protected genetic information includes family history, participation in genetic testing or counseling, and specific genetic test results. However, this protection does not apply to other types of insurance, including life insurance and long term care policies. For more information: https://www.genome.gov/10002328
The clinical test component of Insight Genome becomes part of an individual’s medical record. This also means known pathogenic health issues are documented. The report is a short narrative that describes the findings and may be easily shared with patients, as well as being integrated into the EHR/EMR.
Genomic sequencing is a relatively new science, and certainly is new to clinical care. To this point, it has been utilized as a diagnostic tool for rare undiagnosed diseases believed to be genetic in nature. The Smith Family Clinic for Genomic Medicine is staffed with clinical geneticists and genetic counselors, experts with a depth of experience in this field and who are happy to answer questions. Additionally, the testing laboratory used by the Clinic (HudsonAlpha Clinical Services Lab, LLC) may be consulted to answer further questions about the whole genome sequencing test.
We encourage potential patients to have conversations about genetic testing with family members in advance of doing the Insight Genome test. The information you learn from this test could potentially impact other family members, some of whom may not want to have that information.