Tuesday, May 3, 2022

GENOMIC TESTING: THE FOUNDATION TO PERSONALIZED HEALTH



GENOMICS 101
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

According to industry reports, the global genomics market is projected to reach USD 54.4 billion by 2025 from USD 22.7 billion in 2020, at a CAGR of 19.0% during the forecast period. [1] The fast growing popularity of this diagnostic paradigm (both from the consumer and the clinical communities) is due to the rising support from government funding and the ever-increasing need for cancer research and solutions- all adding to increasing number of labs, technologies and experts in the market. The "genomics revolution" highlighted by the sequencing of the human genome, touts a scientifically innovative approach to disease diagnostics- and offering a promise of supporting prevention and patient care. The potential to improve the economics of scale of healthcare from advanced scanning is a global necessity, but according to the World Health Organization, approximately 80% of investments in genomics in 2000 were made in the United States, and 80% of the DNA patents in genomics in the period 1980 through 1993 were held by US companies. [2]


Advancements in sequencing, from 2D sequencing (1970s) to DNA sequencing have continually improved in data access and reporting - whereby platforms, such as Illumina/ Solexa, ABI/ SOLiD, 454/Roche, and Helicos, have provided unique prospects for high-throughput functional genomic research. After the introduction of NGS technologies in 2005, they have had an incredible influence on genomic research. Currently, next-generation sequencing has its application in the diagnosis of a variety of illnesses, such as cancer, hematological disorders, neurology, psychiatry, dysmorphology, vision and hearing impairment, cardiology, and pharmacogenomics.[3]

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.[4] 





GENOMIC TESTING: A DIAGNOSTIC INNOVATION FOR PREDISPOSITION SCANNING

In a 2022 review by NYCRA-NEWS, a consistent and rapid growth in the GENOMICS TESTING market indicates promise and confidence in the diagnostic community.  Since the mapping of the human genome in 2003, the ability to offer a patient's physiological blueprint cemented a sound way of safely, accurately and cost-effectively identifying PRE-DISPOSITION.[1]  It is also widely recognized for 
diagnosing, monitoring, treating, possibly preventing and even predicting disease, as well as promoting good health in individuals, across communities and whole populations. [2]

Through a simple oral swab, saliva or blood test, a sequencing lab can output countless bits of information about the patient's DNA and how it impacts physiology and predisposition to disease..  To some, certain tests can help formulate a proper (and safe) treatment plan that is custom-designed for that specific patient (otherwise known as PERSONALIZED MEDICINE). The same area of study can help recognize a patient's potential adverse reaction (side effects) to medicines.

DNA testing is not new. Genetic sequencing (detecting for hereditary cell mutations) has been around since the 70's. The Human Genome Project, which was completed in 2003, mapped all 3 billion letters of the human genome and identified est. 20,000 genes. [3] 20 years into this, the market continues to expand and investment is equally high.  The data is solid and diagnostics on the cellular level is part of our modern medical reality.

Growth in subscription to genomic testing by medical/healthcare practices have found significant advantages:

1) Under the supervision of an experienced interpretation specialist and a reputable lab, getting a patient's genetic road-map can offer a significantly streamlined and intelligent patient care strategy for genetic  treatment and possibly prevention of most diseases.  A genomic test can offer a highly focused or a more generalized view into each person's DNA makeup as needed. 

2) Genomic testing increases the professional capacity of any provider by offering one of the most modern, accurate and highly quantifiable diagnostic readings of the entire patient.  This effective and highly detailed patient reporting is a highly manageable and expandable diagnostics to support many treatment strategies.

3) Genomics can be the core modality behind any PREVENTION or RISK REDUCTION program as part of personalized medicine.



References: 
1) "Genetic Test Availability And Spending: Where Are We Now? Where Are We Going?" -  https://www.healthaffairs.org/doi/10.1377/hlthaff.2017.1427
2) "Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges": https://www.frontiersin.org/articles/10.3389/fpubh.2019.00040/full


VIEWPOINTS

"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

"Wow! I keep thinking about the possibilities that genomic testing can [bring not only to] perfectly describe what your health future could be but as a PEMF specialist it gives me the opportunity to target specifically with scientific evidence your 3 billion letters of your DNA containing more than 20,000 genes. This would allow me to establish a very precise [PERSONALIZED] program, not only for your current health problem, but first and foremost, in a preventive approach. It would also help your doctor to make a quick and efficient diagnosis of any possible disease with proper prescribed medication in the first instance."   
- JOSEPH JOCELYN TOY, Therapeutic Specialist - (www.cliniquesneuroviesante.com)    




REFERENCES

1) https://www.marketsandmarkets.com/Market-Reports/genomics-market-613.html

2) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1447192/

3) https://www.globenewswire.com/en/news-release/2020/12/09/2142102/28124/en/Global-DNA-Sequencing-Market-2020-to-2025-Growth-Trends-and-Forecasts.html

4) NHGRI: https://www.genome.gov/about-genomics/fact-sheets/DNA-Sequencing-Costs-Data

5) https://www.marketdataforecast.com/market-reports/north-america-genomics-market

6) https://www.prnewswire.com/news-releases/north-america-genomics-market-2017-2019--forecast-to-2025---growth-in-investments--funds-for-genomics--declining-cost-of-sequencing-procedures-300853943.html

GENOMIC TESTING: THE FOUNDATION TO PERSONALIZED HEALTH

GENOMICS 101 Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and wi...