Five Ways That Genetic Research and Advancements Inform Healthcare

A Timeline of Genetic Research Progress

Before understanding the implications of genetics, it is essential to understand the history of genetic research and the progressions that have come since the discovery of the double helix structure of DNA in the 1950s.

According to the American Society of Human Genetics (ASHG), which is celebrating its 75th anniversary this year, the following discoveries and progressions have helped guide the completion of the Human Genome Project, the development of gene-based interventions, and additional genetic research.

• 1950s: The 1950s marked the first discovery of the DNA double helix by Rosalind Franklin. During this decade, researchers also began to work on karyotyping techniques. Additionally, medical research helped inform research on single gene disorders.
• 1970s: One of the most extraordinary developments in genetic research is the ability to manipulate DNA through recombinant DNA approaches. By 1977, researchers had developed technologies for DNA sequencing, namely, Sanger sequencing.
• 1980s: In the 1980s, researchers began looking for DNA markers, or biomarkers, for disease mapping. Later in the decade, the Human Genome Project established the Bermuda Principles for sharing genomic data.
• 1990s: Throughout the 1990s and early 2000s, the Human Genome Project continued to sequence and map the human genome, releasing the first draft of the human genome in 2001.
• 2000s to present: In 2005, next-generation sequencing was built on Sanger sequencing, allowing for whole genome sequencing or targeted sequencing of specific areas, such as exome sequencing. By 2012, a revolution in genomic technology came with the discovery of the . Building on data, researchers have continued to develop and advance gene therapies, genetic testing, RNA therapies, and more genome-based treatments.

Today, advancements in genetic research have contributed to and enhanced the growing field of personalized medicine. Additionally, it has improved disease risk factor assessments and early disease detection, informed lifestyle changes to reduce risks, contributed to the development of genetic counseling and reproductive health data, and guided ongoing clinical trials and research efforts.

Personalized Medicine

The National Human Genome Research Institute (NHGRI), a subset of the National Institutes of Health (NIH), defines personalized medicine as “an emerging practice of medicine that uses an individual’s genetic profile to guide decisions made in regard to the prevention, diagnoses, and treatment of disease.”

According to Frontiers in Sociology, personalized medicine requires biological data, including genomics, transcriptomics, epigenomics, proteomics, metabolomics, and pharmacogenomics. The University of Utah Health notes that personalized medicine is sometimes called genomic medicine because of its heavy reliance on genetics.

Although some sources differentiate the terms, researchers in the Herald of the Russian Academy of Sciences note that personalized and precision medicine are similar concepts. These healthcare methods have benefited significantly from translational research and advancements in genomics.

Personalized medicine focuses on patient-centered care, with recent advancements in bioinformatics, genetic pathology registries, and artificial intelligence significantly improving health systems.

As more clinicians and healthcare providers accept that medicine is not one-size-fits-all, they are turning toward genotyping and genetic testing to understand better a patient’s health and what treatments they may benefit from.

In clinical practice, clinicians can compare a patient’s genetic information to datasets of genetic variants to understand if their patient is predisposed to certain illnesses.

Beyond that, genomic testing can provide insight into pharmacogenetics, allowing providers to determine the best treatment based on their patient’s genetic variations.

Large-scale datasets on genetic disease epidemiology and mutations have continued to advance clinical genomics, which has guided personalized medicine.

Early Detection

Advancements in genetic testing have altered the risk assessment and diagnostic landscape for many heritable and genetic diseases.

For example, researchers have advanced the tools to test for genetic diseases, allowing providers to better understand and detect multiple illnesses, including rare diseases.

In oncology, genetic variations can determine whether a patient is at an increased risk for a specific type of cancer. For instance, patients with a family history of breast cancer may be tested for genetic risk factors that correlate with a high risk of breast cancer. While knowing the genetic risk will not prevent the disease, it can provide a patient with actionable data for minimizing disease risk or early detection.

Beyond oncology, other genetic conditions, such as Huntington’s disease, can be detected through predictive genetic testing.

Risk Reduction and Lifestyle Changes

In addition to early disease detection, genetic variations can be used for disease risk assessments. While specific genes may not necessarily cause an illness, many can indicate increased risks of chronic diseases such as cardiovascular disease and type 2 diabetes.

Understanding genetic risk may guide patients to make certain lifestyle changes. Primary care providers may also use genetic sequence data and health research to recommend evidence-based risk management strategies.

A 2022 study published in the Journal of Community Genetics surveying over 900 participants revealed that 79.6% of people were willing to change habits based on genetic test results. Additionally, 66.5% were ready to change their exercise habits, and 49.5% were willing to manage their weight.

The researchers note, “Our study reveals that interest in genetic testing for cancer risk is high among patients and community members and is high across demographic and socioeconomic groups, as is the reported willingness to change behavior. Based on these results, we recommend that population-based genetic testing may result in greater reduction cancer risk, particularly among minoritized groups.”

Genetic Counseling and Reproductive Health

Research on genetic determinants has also expanded the field of genetic counseling and prenatal genetic testing. Genetic counseling continues to become more widely available as more information becomes available on genomics and how it relates to disease susceptibility.

On one hand, genetic counseling can be used for patients with family members or a family history of diseases. For example, if a patient has a family history of colorectal cancer, they may seek genetic counseling to see if they are at high risk. Getting genetic counseling may alter when a patient should get screened for a particular condition.

Conversely, patients trying to conceive but with a genetic condition may follow up with a genetic counselor for prenatal testing. This allows prospective parents to assess their risk of passing on genetic disorders to their children and make informed decisions about family planning. Understanding the chance of conceiving a child with a hereditary illness may help parents prepare for pregnancy or birth and future pediatric care.

New Drug and Therapy Development

One of the final implications of genetic research is how it informs new drug development. Gene therapies are one of the largest and ever-changing healthcare areas. As research reveals more insight into the genetic basis of disease, pharmaceutical companies and scientists can apply that data to develop new treatments that target these genetic variations.

In oncology, genetic insights into disease already guide treatment regimens and disease management. For example, some clinicians are incorporating ctDNA testing into treatments for colorectal cancer.

Advancements in Genomics

While genetic research has come a long way since its original discovery, there is still room for more advancements and developments. The ASHG provides seven forward-looking statements on advances in human genetics and genomics.

• Expanded whole genome sequencing: The ASHG notes that any patient with a suspected genetic disorder should be able to undergo whole genome sequencing. The current cost of sequencing has caused access disparities across various communities.
• Integrate genomic information: The organization notes that genomic data should be combined with information on environmental exposures and lifestyle habits to predict monogenic and polygenic health conditions. Sequencing data cannot be used to make decisions alone. However, providers can conduct a more holistic patient analysis with other data from patients or their electronic health records (EHRs).
• Diversity in genomic research: As with all clinical research, it is essential to promote diversity in genetic analysis to understand disease prevalence and presentation better. According to the ASHG, 90% of genomic sequencing has been performed on European populations, even though they only represent 16% of the global population.
• Longitudinal biobanks: Another goal for genomic research programs is to develop biobanks with longitudinal genomic data from diverse populations.
• Patient-derived models: ASHG notes that using human stem cells or patient-derived models to replace animal trials is critical for understanding the efficacy of genetic therapies.
• Functional characterization of all coding and non-coding genes: A better understanding of these factors can help researchers understand the roles of genes in disease development and biological processes.
• Increased awareness: While using genomic data to understand disease incidence and treatment is critical for improving healthcare, improving public health through genomic data requires that more people become educated on how genomics can impact health beyond phenotypic presentations.