WHAT CAN GENOMICS TESTING DO FOR YOU?

by Alicia McKelvey, MD

Personalized medicine, also known as precision medicine, has been somewhat of a holy grail in healthcare for decades. The desire to predict, diagnose and treat disease more precisely on an individualized basis has driven innovation and research into the human genome, which is defined as the complete set of nucleic acid sequences, encoded as DNA.

In 2003, there was a huge breakthrough when the Human Genome Project announced it had sequenced around 20,000 genes of the human body. This discovery has been transforming health care ever since, with genomic sequencing now more cost effective and precise than ever.

The Human Genome Project was launched in 1990, a future-looking endeavor that took 13 years and approximately $2.7 billion of federal funding to complete. The project’s goal was to map the whole structure of the human genome and sequence it. In the years since, genomic testing has been refined and has become more widely available. DNA testing for genetic genealogy purposes through companies like 23andMe and AncestryDNA was the first application to hit the market and exploded quickly in popularity. All the while, companies like IntellxxDNA, Illumina and others were developing increasingly more accurate and cost-effective genomic testing tools for medical practitioners and individuals to use with the goal of improving and personalizing clinical outcomes.

The ability to choose to access and use genetic information is still a relatively new development in health care, but futurists believe that in the not-too-distant future, this approach will form the backbone of everyday health care delivery, improving diagnoses and patient results through more precise and earlier intervention.

Often confused, genetics and genomics are similar but distinct disciplines. Genetics is the study of heredity; genomics is the study of genes, their functions and relationships. According to the World Health Organization (WHO), the primary difference is that genetics focuses on the function and composition of a single gene, where genomics incorporates all genes and their interrelationships, as well as interaction with the external environment. A genome is thus an organism’s full DNA, inclusive of all its genes. A complete human genome contains three billion base pairs of DNA, uniquely arranged to give each individual their anatomy and characteristics, including the molecular recipe for an individual’s tissues, proteins and enzymes.

Researchers in epigenetics have proven that genetics are not fixed; genes can be influenced and altered by lifestyle, nutrition, environment and other variable factors. Research indicates all humans are 99.9 percent identical on a genetic level. The crucial 0.1 percent difference is due to insertions, deletions and alterations in the DNA sequence. These variations, known as Single Nucleotide Polymorphisms (SNPs), typically occur in about 1,000 base pairs in any given individual. Many diseases, including cancer, have been found to be caused by gene alterations, so it is in these SNPs where genomic testing is proving particularly useful in identifying areas of potential or existing dysfunction.

Genomic testing is not limited to identifying rare diseases. As many as 90 percent of people are carriers of genetic conditions which may develop into problematic disease; seven to eight percent will have a genetic condition during their lifetime. Population studies have shown that approximately 17 percent of the population carries a gene mutation for which there are treatment and preventive options. That’s one in every six people.

At this time, more than 2,000 different disease genes have been identified. Cancer and cardiovascular disease are leading causes of disability and death in this country; both diseases have had extensive DNA sequencing done and can be screened for/possibly prevented if found early enough.

Common conditions addressed by genomic testing include: brain health, dementia, stress management, autoimmune conditions/chronic inflammation, food intolerances, heart health, gastrointestinal issues, Diabetes Mellitus, osteoporosis, toxin clearance and vitamin metabolism.

Genomic testing and its valuable data empower individuals to be proactive about their health in partnership with their providers. This is especially going to aid those living in a diagnostic maze with unidentifiable illness, whose symptoms don’t improve even after conventional treatment.