Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment. An organism's complete set of DNA is called its genome. Virtually every single cell in the body contains a complete copy of the approximately 3 billion DNA base pairs, or letters, that make up the human genome. With its four-letter language, DNA contains the information needed to build the entire human body. A gene traditionally refers to the unit of DNA that carries the instructions for making a specific protein or set of proteins. Each of the estimated 20,000 to 25,000 genes in the human genome codes for an average of three proteins.
Virtually every human ailment has some basis in our genes. Until recently, doctors were able to take the study of genes, or genetics, into consideration only in cases of birth defects and a limited set of other diseases. These were conditions, such as sickle cell anemia, which have very simple, predictable inheritance patterns because each is caused by a change in a single gene.
The Human Genome Project was designed to generate a resource that could be used for a broad range of biomedical studies. One such use is to look for the genetic variations that increase risk of specific diseases, such as cancer, or to look for the type of genetic mutations frequently seen in cancerous cells. More research can then be done to fully understand how the genome functions and to discover the genetic basis for health and disease.
ESSENTIALS OF GENOMIC TESTING
By: Dr. Roberta Kline
DNA (deoxyribonucleic acid) makes up the genes that contain the blueprint for how our bodies operate ‐ from energy production in mitochondria to walking and breathing, from cellular health to digesting food, from thinking and running to protection from viruses, how we age and more. While humans are 99.9% alike in our DNA, it's the difference in that 0.1% that makes us each unique. Much of that difference comes from millions of small changes in our DNA.
Genomic testing focuses on these small changes in DNA called single nucleotide polymorphisms (SNPs) that potentially predispose to disease or problems with medications by altering the body's biochemistry. But knowing about these potential areas of weakness is just the first step. The powerful part is that we know how to modulate their impact, thus potentially changing the outcome by reversing course, delaying onset or even preventing a disease process altogether.
By decoding the instructions contained in DNA, each person becomes empowered with their own operating manual as to what they need for health. They can let go of the struggle as their blueprint guides them to the diet, lifestyle, exercise, supplements and medications that are best suited to their genes. And because we are only human, when life throws a curveball, having this personalized roadmap helps to get back on track much faster and with more precision.
- Nutrigenomics evaluates DNA to provide personalized diet, lifestyle, supplement and exercise recommendations for prevention and disease management strategies.
- Oncogenomics is a sub-field of genomics that characterizes cancer-associated genes. It focuses on genomic, epigenomic and transcript alterations in cancer.
- Pharmacogenomics evaluates DNA to provide personalized medication guidance for current and/or future medications.
MedTech Review: Global Advance in DNA Sequencing and the Genomic Testing Market
As with all markets, accessibility follows the direction of affordability, whereby the popularity of Genomic testing reflects the lowering cost per raw megabasse of DNA sequencing. The image (insert) shows the cost-accounting data summarizing (1) "Cost per Megabase of DNA Sequence" and the cost of determining one megabase (Mb; a million bases) of DNA sequence of a specified quality [see below]; (2) "Cost per Genome" - the cost of sequencing a human-sized genome.
"The possible applications of genomic medicine are simply astounding to me. Truly, I can imagine boundless potential for harnessing this vital information and developing greater understanding of the impact of our genome on disease development, prevention, and treatment. As a physical therapist, the potential for disease prevention and holistic care of individuals through genome sequencing and lifestyle modification is so exciting. As a mother of two children who have been affected by a rare disease, viral myocarditis, without an identified genetic correlate, knowing more about how their genetic code impacts their disease presentation as well as improving efficient diagnosis and developing precision treatment methods would be absolutely life changing. We are living in an exciting time, and I'm thrilled to see the future of genomic medicine unfold in its many presentations!" - JANA ROJAS, PT / CEO of the For Elysa Foundation www.forelysa.org
"As a skincare professional and esthetics educator, the idea of having genetic information to create highly individualized skincare treatment plans and homecare regimens that will be specifically tailored based on the scientific evidence present in the interpretation of your DNA sequencing, seems like some sort of Star Trek episode where Lt. Uhura goes to the spa. This is going to revolutionize the skincare industry and those skincare professionals who are early adapters are going to thrive! Investing in a relationship with an experienced interpretation specialist and a reputable lab will offer an intelligent consultation and analysis process that will strategically recommend the most advanced treatments and topical skincare for clients’ skin health" - MARY NIELSEN, Spectrum Advanced Aesthetics Institute
- JOSEPH JOCELYN TOY, Therapeutic Specialist - (www.cliniquesneuroviesante.com)