The Future of Health: Genome Sequencing by David Priede, PhD

On June 26, 2000, the U.S. and U.K. governments simultaneously announced the completion of the first draft of the entire human genome, the first map of the three billion base pairs that make up human DNA. The international project, led by scientists worldwide, aimed to provide high-quality sequencing data to help the scientific community understand human genetics, health, and disease. The final sequence was declared complete in 2003 as the culmination of more than ten years of effort. The prediction is that genome science will revolutionize the diagnosis, prevention, and treatment of most, if not all, human diseases. In the future, physicians will increasingly be able to cure diseases like Alzheimer’s, Parkinson’s, diabetes, and cancer by attacking their genetic roots.

Identification of Disease

Although the optimism of 20 years ago has not been matched with success in every area, much of the promise has begun to be realized. Scientists have so far identified over 7,000 rare diseases and 50 to 70 genes that confer cancer risk, developed simple prenatal blood tests to detect chromosomal abnormalities, and generated genetic profiles of tumors to facilitate targeted therapies, among other accomplishments. The global fight against COVID-19 relies on genomics. There hasn’t been a pharmaceutical developed in the last 20 years that hasn’t utilized genome information.

The impact of genome sequencing (reading DNA) will provide vast advancements in the future of healthcare. By 2030, analyzing a single drop of blood will tell precisely what health issues DNA makes one predisposed to throughout life. This knowledge will allow the individual to prepare for and prevent a range of physical and mental conditions years, maybe decades, in advance.

Genome sequencing science will finally end all permanent and preventable physical injuries and mental disorders over the next three to four decades. It’s about empowering patients to become partners with their caregivers. Only then will society finally enter an age of perfect health. DNA sequencing companies one day will unveil new machines to order up a complete genome for less than $100. This would mean that one might have a cheaper genetic test than a general blood test.

Starting with Infants

Once infants begin getting these tests as a normal process of their post-birth health review, there will eventually be a time where humans go through their entire lives free of preventable diseases and physical handicaps. Tracking one’s body’s data and predicting long-term health will go hand-in-hand with continuously monitoring an individual’s current health. These futuristic trends are already beginning to enter mainstream health.

Parents and physicians tend to agree that genome sequencing will be the first-tier diagnostic benefiting infants. For example, babies in intensive care can benefit from genomic sequencing to manage care with diseases of unknown origin. Recent research examined parents’ and physicians’ attitudes of infants admitted to neonatal intensive care about their perceptions of the usefulness of applying genomic testing to obtain an immediate diagnosis. When results are positive, sequencing reveals the genetic variation responsible for the child’s disease. A high proportion of both physicians and parents perceived that this testing had life-changing utility.

These studies clearly show that genomic sequencing can be done safely in the neonatal intensive care unit (NICU), leading to improved communication between families and their healthcare teams. More than 20,000 genetic diseases have been identified, with many new genetic variations or code errors discovered daily. Researchers have optimized the use of rapid whole-genome sequencing for quick answers to attending physicians in time to guide disease-specific intervention.

Pharmacogenomics

Recent years have seen personalized medicine growth, which tailors interventions to individuals according to their genetic makeup. On the other hand, the advent of new genomic sequencing technologies, which empower the high-speed analysis of multiple genes, radically changes how genetic testing may be utilized in medical care. Genomic medicine has already shown benefit in refining diagnoses and guiding therapeutic approaches such as cancer.

Genomic information can help clinicians decide treatment strategies by classifying a tumor according to its mutations and corresponding drug sensitivities. In some cases, patients have been spared costly and complicated procedures, such as bone marrow transplants, based on a molecular diagnosis. Cancer treatment is also set to benefit from genomic information to predict how an individual will respond to drugs (known as pharmacogenomics) and inform prescription of the appropriate medication or dosage.

Pharmacogenomic applications extend into many clinical practice areas, for example, in prescribing drugs such as antidepressants, analgesics, and anticoagulants. Genomic information is expected to change pharmaceutical testing and use through disease stratification dramatically in the longer term. New research of molecular pathways underlying health and disease will continue to further drug development and design.

Researchers are using genomic data to create new therapeutic applications for existing drugs (repositioning) with significant cost savings and better select individuals for clinical trials to find uses for drugs that failed earlier (rescue and repurposing). Improved targeting of existing drug use avoids inefficient and risky therapy. It can provide savings for the healthcare system and the economy at large.

Benefits of Genome Sequencing

Genome-wide sequencing is also being applied to the analysis of circulating DNA in the plasma of cancer patients and individuals with other diseases. This technology enables non-invasive tumor detection and monitoring responses to therapy that promises to improve patient management significantly.

In oncology, considerable investments are being poured into the development of liquid biopsies. It is easy to imagine such a sequence-based cancer test becoming a regular screening instrument, used much like Pap smears and colonoscopies. With the advent of cancer treatments that target specific mutations rather than tumor types, liquid biopsies could ultimately guide therapeutic interventions even when tumors are known to exist only from DNA-sequence signatures present in blood samples.

Customized nutrition and diets will also allow health apps and services to tailor a diet plan to fit an individual’s DNA (specifically, the microbiome of gut bacteria). Today, common wisdom says that all foods should affect individuals in the same way, ‘good foods’ should make one feel better, and ‘bad foods’ should make one feel inadequate or bloated.

Recent findings are beginning to reveal that the microbiome’s composition and health noticeably affect how the body processes foods, converts them to energy or stores them as fat. By sequencing the microbiome, future dieticians will tailor a diet plan that better fits one’s unique DNA and metabolism. Later, this approach can be applied to a genome-customized exercise routine.

Genomic medicine will transform healthcare and the national economy, especially as the average lifespan increases. Personal financial benefits accrue in the genomically advised restoration of health and consequent earning ability. Higher precision in risk identification reduces health costs for a person and the healthcare system by avoiding adverse reactions and unnecessary therapies.

Genomic medication has the potential to make a genetic analysis of disease a much more efficient and cost-effective procedure by lowering genetic testing into a single analysis, which then informs individuals throughout life. Genomic information and its application to technological advancements, clinical research, and healthcare will also significantly impact the U.S. market by reducing productivity losses, diminishing costs of treating illness, and generating new medical information industries.

The rapid increase in populations’ age, accelerating healthcare costs, and the growing burden of chronic disease present significant challenges to health systems worldwide. The U.S. government has recognized this imperative. Such tests have great potential. Physicians, parents, and caregivers can learn valuable information about drug sensitivity, multifactorial or monogenic medical conditions, and even family history. Some tests analyze, despite some being difficult to understand, practical calls to action. For example, it shows that an individual should have a higher intake of vitamins A and E and iron and no lactose, gluten, or alcohol intolerance. It also reveals conditions to which one may be at risk, informing them to take preventive actions.

Dr. David‌ ‌Priede‌ is‌ ‌the‌ ‌founder ‌and‌ ‌Director‌ ‌of‌ ‌Biolife‌ ‌Health‌ ‌Center‌ ‌in Weston,‌ ‌FL.‌ ‌ ‌He‌ ‌is‌ ‌a ‌member‌ ‌of‌ ‌the‌ ‌American‌ ‌Medical‌ ‌Association,‌ ‌the‌ ‌National‌ ‌Association‌ ‌for‌ ‌Healthcare‌ ‌Quality,‌ ‌the‌ ‌Society‌ ‌for‌ Neuroscience,‌ ‌the‌ ‌National‌ ‌Center‌ ‌for‌ ‌Biotechnology‌ ‌Information‌, and‌ ‌the‌ ‌American‌ ‌Brain‌ ‌Foundation.‌