The Foundation of Precision Medicine — Understand Your Genome®

Three months ago, Dr. Kaylen Silverberg gave a vial of blood to Illumina and the Understand Your Genome project. Today he feels reassured by two facts:

1. neither he nor his children are predisposed to any catastrophic inheritable genetic illness and
2. he has played a role in helping geneticists build a global, dynamic genomic library that will help advance the emerging field of precision medicine.

The Texas Fertility Center medical director was one of three program “captains” to present to and engage with the world’s leading healthcare genetics experts at the Understand Your Genome Symposium in San Diego, Calif. Illumina, a global leader in innovative genomics technologies, provided attendees the opportunity to participate in personal genome sequencing as part of this program.

The audience of geneticists, reproductive endocrinologists, maternal/fetal medicine experts and others joins an emerging movement to engage, educate and motivate both physicians and patients to explore what’s possible with DNA analysis.

“Precision medicine, when applied to diagnostic testing and predictive treatments, will change the way we care for people, now and for generations to come,” said Dr. Silverberg, who directed the preconception genetic testing and fertility section of the symposium.

Dr. Silverberg explains how to read what’s in our genes

The blueprint of human life is written in our DNA. “Think of DNA as a book,” explains Dr. Silverberg. “Our chromosomes are the 46 chapters, genes make up the 25,000 paragraphs in those chapters, and three billion letters (A, C, G, T) spell out the story.”

When a baby has sickle cell disease, for example, he or she has a single misplaced letter — a typographical error — in his or her DNA. This leads to an abnormal form of hemoglobin that, due to its impaired ability to carry oxygen, produces a life threatening disease.

The technology represented by Understand Your Genome enables scientists to quickly scan an individual’s “story” for typos. “There are currently more than 1,200 different diseases and multiple different drug interactions that we can potentially address,” said Dr. Silverberg. “This exciting technology, when used as part of a single IVF cycle, enables us to completely eradicate inherited diseases that have ravaged families for generations”. “In addition, when applied to other fields such as oncology, malignant tumors can be evaluated to determine the optimal treatment for that individual’s particular cancer. No longer will all cancer patients with a specific type of cancer be treated the same. This application of ‘precision medicine’ will maximize chemotherapy effectiveness while minimizing side effects”.

He explains that companies like 23 and Me provide technology that, while interesting, only scratches the surface of what is possible. Whole genomic sequencing, on the other hand, reads every single base pair in an individual’s DNA. The entire process used to take several years and cost upwards of $1 million. Today, results are available within weeks at a cost of $10,000 to $15,000. Testing occurs in the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory.

Texas Fertility Center joins a global effort

The Understand Your Genome project has already reached medical and business leaders around the world. The next event is April 2017 in Phoenix, AZ.

Dr. Silverberg’s participation led to personal discovery — he learned that he has a minor blood clotting disorder. More importantly, the Illumina project team will glean invaluable data from his DNA.

“Precision medicine will continue to revolutionize medicine. For example, it is now possible to draw blood, or even use a Pap smear, to diagnose fetal genetic abnormalities. What we learn from this project, this journey, is how to exactly treat a medical problem. When a patient has a bladder infection, we will know the right antibiotic to prescribe. If someone has lung cancer, gene mapping will dictate the optimal treatment. This technology arms you with data to make decisions that can impact and change your future.”

To follow the Understand Your Genome project, watch the Texas Fertility Center website for updates, or visit www.understandyourgenome.com.