What Can Genomics Testing Do for You?: Patient-Specific Diagnostics & Care Go Mainstream
Apr 30, 2023 02:00PM ● 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.
Genetics vs. Genomics
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 inter-relationships, 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.
Functional Medicine and Genomics: Getting to the Root Cause
Inability to identify the cause of disease and hyper-focus on symptom management are primary complaints people express about conventional medicine as currently practiced in the U.S. Genomic testing is a clinical decision-making tool that helps to get to the root cause of illness and takes a more preventive rather than symptomatic approach.
Understanding an individual’s genomic profile provides a detailed guide for a holistic health practitioner to optimize care for a specific body and mind by looking at the very foundation of that body’s systems. The information provided through the genomic testing gives a window into an individual’s entire being at a molecular level. That data, combined with an integrative approach including lifestyle, diet, social and environmental factors, stress and other life aspects, allows a holistic practitioner an opportunity to address existing chronic conditions and proactively prevent the development of potentially more serious disease.
Genomic evaluations lead to personalized health plans and evidence-based intervention strategies based on the specific patient concerns. Intervention can now be tailored and specifically address an individual’s unique set of challenges, no matter their age, race or gender. The result can be a more direct path to wellness and improved quality of life, with less guesswork and symptom management needed along the way. There may be layers of dysfunction to be addressed, so complete resolution of issues can take time, but noticeable improvement can be expected.
Genomic Testing and Reporting Process
The genomic testing process is simple and convenient, as anyone who has done their genealogy test can validate. A single saliva sample is used for the test, from a test kit sent to a patient’s home or provided by the practitioner. The swab from the kit is used on the inside of the mouth to get the DNA sample and the specimen is then sent to the company lab doing the genetic sequencing. When the reports arrive, the clinician analyzes the results and discusses with the individual the newly revealed health risks and benefits.
The reports become the backbone for planning the personalized approach to health, wellness and better quality of life. The report data will not make conclusions or healthcare decisions for anyone. They simply examine the complex relationship between the various SNPs in the person’s system. The goal of using the data is to support the unique body through individualized nutrition, vitamins and supplements, as well as recommended lifestyle adjustments, reducing the need for pharmaceutical intervention.
This approach will be familiar to anyone who has worked with a naturopath or functional medicine physician; it is the detailed genetic roadmap to the individual body that is the innovative and exciting part of the equation.
State-of-the-art genomic technology is moving the needle in the direction of more empowered and individualized patient care. The advancements now being implemented have been the dream of many physicians and researchers for decades. There is no better time than the present to take advantage of these innovations to improve health care outcomes in chronic conditions and prevent more serious disease further down the line.
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.
Genetics vs. Genomics
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 inter-relationships, 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.
Functional Medicine and Genomics: Getting to the Root Cause
Inability to identify the cause of disease and hyper-focus on symptom management are primary complaints people express about conventional medicine as currently practiced in the U.S. Genomic testing is a clinical decision-making tool that helps to get to the root cause of illness and takes a more preventive rather than symptomatic approach.
Understanding an individual’s genomic profile provides a detailed guide for a holistic health practitioner to optimize care for a specific body and mind by looking at the very foundation of that body’s systems. The information provided through the genomic testing gives a window into an individual’s entire being at a molecular level. That data, combined with an integrative approach including lifestyle, diet, social and environmental factors, stress and other life aspects, allows a holistic practitioner an opportunity to address existing chronic conditions and proactively prevent the development of potentially more serious disease.
Genomic evaluations lead to personalized health plans and evidence-based intervention strategies based on the specific patient concerns. Intervention can now be tailored and specifically address an individual’s unique set of challenges, no matter their age, race or gender. The result can be a more direct path to wellness and improved quality of life, with less guesswork and symptom management needed along the way. There may be layers of dysfunction to be addressed, so complete resolution of issues can take time, but noticeable improvement can be expected.
Genomic Testing and Reporting Process
The genomic testing process is simple and convenient, as anyone who has done their genealogy test can validate. A single saliva sample is used for the test, from a test kit sent to a patient’s home or provided by the practitioner. The swab from the kit is used on the inside of the mouth to get the DNA sample and the specimen is then sent to the company lab doing the genetic sequencing. When the reports arrive, the clinician analyzes the results and discusses with the individual the newly revealed health risks and benefits.
The reports become the backbone for planning the personalized approach to health, wellness and better quality of life. The report data will not make conclusions or healthcare decisions for anyone. They simply examine the complex relationship between the various SNPs in the person’s system. The goal of using the data is to support the unique body through individualized nutrition, vitamins and supplements, as well as recommended lifestyle adjustments, reducing the need for pharmaceutical intervention.
This approach will be familiar to anyone who has worked with a naturopath or functional medicine physician; it is the detailed genetic roadmap to the individual body that is the innovative and exciting part of the equation.
State-of-the-art genomic technology is moving the needle in the direction of more empowered and individualized patient care. The advancements now being implemented have been the dream of many physicians and researchers for decades. There is no better time than the present to take advantage of these innovations to improve health care outcomes in chronic conditions and prevent more serious disease further down the line.
PATIENT CASE STUDY: Fatigue and eyesight changes
JB is a 52-year-old man, who had not been feeling well for several months. He was experiencing some fatigue and a change in his eyesight. JB was eating a very good diet, and had a physically demanding job. Genomics was used to get to the root cause of his symptoms, and found that his body had genomic variant, ATP Binding Cassette Subfamily C, that impacted his body’s ability to get rid of pesticides, heavy metals and molds. Inability to rid the body of these substances can increase the risk of brain toxicity and cognitive issues. Blood work revealed a blood mercury level nearly seven times the normal limit. JB often ate sushi for lunch and frequently ate salmon and swordfish for dinner. Both salmon and swordfish can contain heavy metals, like mercury. An herbal supplement was used for a month to gently help his body eliminate the mercury. Fish was initially removed from JB’s diet as well. Six months later, he had no detectable mercury in his system, and his symptoms had resolved.PATIENT CASE STUDY: Cardiovascular issues, inflammation and memory decline
LD is a 65-year-old man who has lived the life of an adventurer, including climbing Mount Everest. Over the last 15 years, he has had multiple cardiac procedures for blocked heart (coronary) vessels. His wife has also noticed memory issues, worsening over the last two years. Symptoms of heart disease and cognitive decline can often be linked to the same variants.
LD is a 65-year-old man who has lived the life of an adventurer, including climbing Mount Everest. Over the last 15 years, he has had multiple cardiac procedures for blocked heart (coronary) vessels. His wife has also noticed memory issues, worsening over the last two years. Symptoms of heart disease and cognitive decline can often be linked to the same variants.
LD had many pro-inflammatory variants that impact the health of his blood vessels, both in his heart and brain. Reducing that inflammation can arrest, and even reverse the blood vessel disease. LD also had a variant causing too much fibrin to be made. Fibrin is a protein that creates a protein net to catch platelets to make clot. This variant causes larger clots to be made, which in turn, can impact cardiac and brain health. Dietary changes and supplements were used to reduce the fibrin, the inflammation, and to support brain health. Measured after four months, there had been a noticeable impact on his cognitive health. The impact on his cardiac health is a long-term goal.
PATIENT CASE STUDY: Asthma, psoriasis, inflammation and psoriatic arthritisKM, a 44-year-old woman, has had asthma since the age of five. She typically had to use her rescue inhaler weekly. She developed psoriasis 10 years ago and, within the last two years, began having symptoms of psoriatic arthritis. Due to a family history of cancer, she was reluctant to use the immune suppressant medications currently offered by her rheumatologist to suppress her symptoms. KM wanted to take a deeper dive to root out the causes for her asthma and psoriasis.
Her genomic evaluation showed variants that made her prone to having sensitivity to gluten (HLADQ), and “leaky gut”, also known as gut hyperpermeability. KM also had variants promoting inflammation, including Toll receptor 3, IL-6, CRP and cAMP responsive element binding protein. Removing gluten from her diet while using supplements to balance her immune system and repair her gut has resulted in marked improvement in her asthma; she has not had to use her rescue inhaler in the last five months. Over a total time of six months, her psoriatic plaques have decreased. The joint pain was the first symptom to disappear—two months after instituting the lifestyle changes and adding the supplements.
Alicia McKelvey, MD is board-certified in Integrative Medicine and is Medical Director of Medicine for Living, in Woodbury—a personalized, precision healthcare clinic using DNA technology to prevent, heal and reverse disease. For more information about genomics or to schedule an appointment for genomic testing, call 203-405-1464 or visit MedicineForLivingCT.com. See ad, page 21.
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