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Uncracking the code to a healthier you

DNA (or “deoxyribonucleic acid”) is the hereditary material in humans and almost all other organisms. It is the code of life. Everything that makes you who you are is determined in part by your DNA. Sometimes our DNA can protect us from disease while other times our unique codes can predispose us to it.

We live in a time of significant advances in medicine, especially for cancer patients, who benefit from an accelerated pace of lifesaving discoveries. Some of the best and most promising defenses against cancer are prevention and screening through genetic evaluation. This cutting-edge field of personalized medicine is changing health care.

Personalized medicine — sometimes referred to as “precision medicine” — is a new health care model with medical decisions and practices being tailored to individual patients based on their risk of disease. Genomics — the analysis of your body’s unique genetic makeup — offers a way to customize this care.

With patients participating more in their own health, this emerging approach to care gives patients a voice and provides primary care physicians with important data and recommended actions they can take to improve health outcomes.

A genetic evaluation empowers patients. Genetic testing is all about prevention — to “catch it early.” In cancer diagnosis, it can mean the difference between Stage 1 and Stage 4.

Understanding the risks by using genetic testing and counseling can reduce the nature and severity of treatments, increase survival rates, reduce medical costs and change lives. The ultimate goal of personalized prevention is quite simply determining what medications and treatments work best for you and which ones to avoid.

Genetic evaluation: Testing and counseling

To understand genetic evaluation is to understand the difference between testing and counseling.

Genetic tests are done by analyzing small samples, typically saliva or blood. Scientific research suggests that every human has approximately 25,000 genes per cell. An error in just one gene, and sometimes even the alteration of a single piece of DNA, can be the origin of a risk for a serious medical condition.

Just because you don’t have a family history of certain conditions does not mean that you are not at risk. Genetic testing determines whether your DNA may put you at risk for certain conditions. Some diseases (e.g., Huntington’s disease, Marfan syndrome) can be inherited from just one parent. But most disorders, including cystic fibrosis, sickle cell anemia and Tay-Sachs disease, do not arise unless both parents pass along the genetic code. Genetic testing doesn’t always yield easy-to-understand results. It can reveal the absence, presence or mutation of chromosomes or genes. Deciphering what these results mean and the most ideal way to respond to these results is where a genetic counselor comes in.

Genetic counselors evaluate family history and medical records, order specific genetic tests as a result of reviewing these histories and records, evaluate the results of genetic tests and help patients understand and reach decisions about what to do next. A counselor will help you understand the inheritance patterns of potential disorders, or how likely a genetic abnormality is to result in the actual expression of a disease. They explain the meaning of the medical science involved, provide support and address any emotional concerns raised by the results of testing.

Before you meet with a genetic counselor in person, you should be asked to gather information about your family history. Among this would be information about relatives with genetic disorders, recurring diseases among your immediate or extended family and early or unexplained deaths.

Not a one-time effort

Personalized medicine through genetic testing and counseling is not a one-time effort, but an ongoing care process. Evaluation of a patient’s health along with that of their family allows genetic health care providers to incorporate the latest medical research to determine health risks and provide continued support. At Provenance, we remain involved with our patient’s health by providing tools and information to advocate for their continued wellbeing, and patients are empowered to track their prevention plan.

Patient privacy

Because genetic evaluation in health care is an emerging field, some may have concerns about the use of their personal health information. “GINA,” or the Genetic Information Nondiscrimination Act of 2008, prohibits group health plans and health insurers from denying coverage to a healthy individual or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future. The legislation also bars employers from using individuals’ genetic information when making hiring, firing, job placement, or promotion decisions.

Provenance uses TransferHealth, HIPAA-compliant software designed specifically for genome management. Its design empowers patients with ownership of their genetic data. Patients control who has access to their information using a series of tools provided within the TransferHealth environment — no person or organization accesses the data unless the patient allows it.

Is genetic evaluation for you?

A patient’s health outcome is best served by with a focus on areas where genetic research has yielded the highest medical certainty in risk identification. Today, this certainty lies primarily in cancer genetics, but extends outward as the research allows it. If you fall into any of these categories, you should consider the benefits of an evaluation:

• You or someone in your family has been diagnosed with cancer.

• You have general concerns that you could be at risk for cancer.

• You have a close family member who has been diagnosed with a hereditary condition.

• You have multiple family members with the same medical condition.

Getting started

Genetic evaluation helps people make informed decisions about their health and the health of their family. However, there are many personal genomics companies one might turn to for a genetic report.

A major shortcoming of the genetic testing offered by some national firms is the limited information they use to evaluate a person’s lifetime risk of complex diseases, thus providing an incomplete view of a person’s risk for a given disease. For many diseases, some of these companies test just a few genetic markers, when in reality, many other factors, including additional genetic markers, likely contribute to the development of the diseases.

The deciding factors in choosing a genetic evaluation is the personal guidance of a genetic counselor to interpret the genetic tests and work with you in determining your path forward.

Personalized medicine through genetic testing and counseling is meaningful only when it results in what is called “actionable data.” Simply put, this enables you and your physician to do something with the feedback. It answers not just “what” but also “where, when, and why.”

Do you have a family history of a health condition? Scheduling a genetic evaluation that includes counseling will enable you to learn about your risks of inheriting a health condition and learn the best medical management recommendations for your care.

Dr. Robb Rowley is medical director of Provenance Healthcare and a board-certified internal medicine physician who has been providing adult genetic evaluations in Las Vegas since 2005.