Insight Genome

Your unique genetic code holds information that could help you make future health and wellness decisions in consultation with your physician. The HudsonAlpha Institute for Biotechnology is offering the Insight Genome program for adults interested in unlocking the secrets of their genetic code.

Whole genome sequencing is a comprehensive test that offers a full picture of your genetic code. The goals of the Insight Genome are to personalize your own healthcare and to build a bridge between patients and physicians for truly collaborative, personalized health. 

The Insight Genome is comprised of several components:

Clinical report

Pharmacogenomic report (Kailos Genetics)

Consult with clinical geneticist

Everyone who participates in the Insight Genome will meet with a clinical geneticist, a physician who will order the tests described below.

The two tests are a clinical whole genome and a pharmacogenomics test.

The Clinical Report

A clinical whole genome test must be ordered by a physician at the Smith Family Clinic for Genomic Medicine. In the ordering process, the doctor will indicate any specific diseases you are interesting in learning more about. This may be based on your family history or your own health history.

Every individual has three billion “letters” in their DNA. Those letters make up their genome. What makes every human unique is the four to six million letters that are different. Unless you are an identical twin, no one else shares your genetic makeup. Those four to six million differences are called variants.  Some of those variants are responsible for innocuous differences such as hair or eye color, the shape of your nose, or your adult height. Other variants are linked to disease.

Of those variants linked to disease, some are well-established as pathogenic—we know there is a high likelihood of causing disease. A specific change to the breast cancer gene BRCA1 is an example of a pathogenic variant.

Other variants indicate you are a carrier of a disease. While you may not have the disease (example: cystic fibrosis), you may have a chance of passing it along to your children.

There are two other types of variants: benign and variants of unknown significance. Benign variants are exactly that. Variants of unknown significance are those for which we don’t know if they are pathogenic. It cannot be confirmed or rules out.

These are the types of variants that are included in the Clinical Report.

The Clinical Report will be returned to the Smith Family Clinic. A physician and genetic counselor at the clinic will share those results with you. That report will include information about genetic changes, or variants, that are known to be linked to specific medical conditions; the diseases you “carry” and have a chance at passing along to your children; and specific cancers for which there are inherited genetic links.

The Pharmacogenomic Report

For the Insight Genome, a physician at Smith Family Clinic orders a pharmacogenomic test from Kailos Genetics. The test report the physician receives to share with you contains information about 38 different genes and the medications impacted by those genetic changes in you.

Because every individual’s genetic makeup is different, it impacts the way in which certain medications may work for you. Some genes can impact how your body uses medicines in a good way by leading to better treatment response, a smaller required dosage and less cost for medication.

However, some genes can cause negative reactions including harmful side effects or no effect at all. The good news is that alternate treatments are usually available. By understanding how your body uses medicines, you and your physician are able to immediately select the best treatment for your DNA.