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Genomic Medicine: How Can Genetics Help Prevent Diseases

Unraveling the secrets contained within DNA has changed the way people approach everything from their understanding of family histories to their diets. Where curious individuals once had to painstakingly assemble their family trees, genetic analysis can unlock the secrets of their ancestry and uncover information that otherwise would have been lost to the recesses of time. Analyzing DNA can also help patients understand their health by identifying risk factors for certain diseases and offering doctors insight into treating each patient.

Genomic sequencing has revolutionized how the medical field talks about patient care, and genomic screening will dramatically impact the future of medicine. The information gleaned from sequencing can influence which medication is prescribed, what lifestyle changes need to be made and even life expectancy in general. As genomic medicine becomes more prevalent, experienced medical lab scientists will play a vital role in the future of science and healthcare.

What Is Genomic Medicine?

At its root, genomic medicine is the practice of using genomic information as part of clinical care. More specifically, it’s the use of knowledge of the genome to predict, diagnose, treat and even prevent diseases — it is particularly beneficial in oncology and pharmacology. Though a relatively new area of study, there have already been significant successes due to genomic medicine, according to the National Human Genome Research Institute. For instance, a 2020 study found that genomic screening can pinpoint a heightened risk of cancer and heart disease in previously unrecognized individuals, which allowed them to take risk management measures or begin treatment.

Genomic medicine serves as a way to understand how DNA activates specific genes and influences certain outcomes. This can have a significant impact on the future of healthcare. Researchers at the Harvard T.H. Chan School of Public Health say it’s been a gamechanger for the way doctors understand cancer. Testing for epidermal growth factor receptor (EGFR) in lung cancer has transformed the way doctors approach treatment because EGFR only responds to certain types of drugs.

“In Boston, at teaching hospitals, everyone gets their lung cancer tested for EGFR overexpression. So this is essentially now mainstream,” David Hunter, a cancer researcher, told the school.

What Happens When You Get Your Genome Sequenced?

To better understand the impact that genomic screening has on the future of healthcare, it’s crucial to understand how genetic sequencing works. When scientists talk about a genome, they’re referring to the complete genetic sequencing of an organism — which is made up of DNA. DNA sequencers read genomes and can analyze DNA from any source. But how does the genome reading process work?

For the most sophisticated machines, the process starts with extracting DNA from the patient’s tissue — typically blood or saliva. DNA is prepared by medical lab scientists through a series of enzymatic and chemical reactions so that it’s in a format the sequencers can read. During the sequencing process, each molecule gives off a light signal that’s detected by a camera, and each base (A, G, T and C) has a unique signal. With those signals in hand, analysts can decode the sequence for each cluster of DNA.

Once the sequencing and analyses are complete, patients can be presented with an incredible amount of information that can help them and their doctors think proactively about healthcare. For instance, genome sequencing can identify whether patients have BRCA2 gene mutation — which is commonly linked to breast and ovarian cancer. It can also tell physicians how their patients’ bodies metabolize certain drugs, which can impact courses of treatment.

How Does Genetic Medicine Prevent and Treat Diseases?

Gaining a better understanding of patients’ genetic makeups provides ample opportunities for physicians to better understand their health profile and learn how genetics can help prevent disease.

Genomic medicine is altering the approach to disease prevention and diagnosis by using genetics as a diagnostic tool. Instead of interpreting low-level factors that might cause a disease, error-prone and sometimes incorrect guesswork is replaced with genotyping of an individual’s DNA or RNA. This allows physicians to directly screen and find diseases before they become symptoms, thereby reducing massive healthcare costs and supporting a healthier future for generations to come.

Genetic testing is most commonly associated with identifying and diagnosing diseases that are caused by a gene mutation — such as cystic fibrosis or Huntington’s disease. Similarly, a genetic test can determine whether a patient is at risk for certain diseases that may be prevalent in their family — including certain cancers — and allow them to take preventative measures. It can also determine whether a patient is a carrier for certain genetic diseases like sickle cell anemia.

What happens if a genetic test shows an increased risk for cancer? Risk mitigation becomes a priority. This can be done in a number of ways. According to the American Cancer Society, risk reduction includes the following steps:

  • Lifestyle changes
  • Chemoprevention
  • Preventive or prophylactic surgery
  • Early detection

Genomic screening can do more than identity who is at risk for certain diseases, however. According to the Mayo Clinic, it is also a useful tool to better understand the best way to treat patients. Specifically, doctors can use the information to determine dosages and medications that will be most effective given their patient’s genetic composition.

Genetic testing is perhaps most beneficial in newborns when analysis can reveal whether they have certain genetic and metabolic abnormalities. Even more so than adults, determining whether newborns have certain conditions can begin care and treatment right away.

The Future of Medicine

As genetic testing becomes more common — and more affordable — it may also become the norm for how doctors and patients decide to treat diseases. After all, if they are able to tailor treatment to each individual patient based on genetic composition, it seems like a logical next step to make genetic testing standard practice.

The medical community is already starting to see the positive impact of genetic testing, according to a study published in the Journal of the American Heart Association. The study, led by researchers at the University of Buffalo, found that routine genetic testing resulted in better outcomes for patients with pediatric cardiomyopathies.

“Even in families without a family history of cardiomyopathy, we found that many children with cardiomyopathy have a genetic cause that we can establish,” said Steven E. Lipshultz, MD, the study’s senior author. “Since some mutations are associated with rapidly progressive fatal outcomes, genetic screening could allow children with these mutations to be identified and prioritized for a lifesaving cardiac transplant.”

The Controversy

As with any advancement in technology, genetic screening is not without its challenges and controversy. Although it seems like a net-positive — patients will have more information about their health and doctors will be better equipped to provide personalized treatment — there are several concerns that bioethicists and other concerned parties have about the growing prevalence of genetic testing.

One of the most significant challenges associated with genomic screening is understanding the risks. For instance, while screening can identify patients who may be at great risk for invasive breast cancer, there’s no way of being sure whether it will progress in some patients and not others.

In addition to uncertainty, there are also some ethical concerns. For instance, if a physician sees results that indicate a patient is at great risk for a condition that requires immediate treatment, but the patient does not have that ability to pay for it, does that exacerbate an already growing disparity in healthcare? Additionally, insurance carriers may use genetic testing as a way to deny certain coverage to people who may be at risk of disease, according to the World Health Organization.

“Employers and insurance companies have been known to deny individuals essential healthcare or employment based on knowledge of genetic disposition. This type of discrimination can be socially debilitating and have severe socio-economic consequences,” they write.

But much like with any medical decision, patients have to weigh the pros and cons and make their own choices. A positive test could increase stress, while a negative test could mask certain additional causes. On the other hand, if a test could help patients make lifestyle changes, address a serious illness earlier or provide a roadmap to best treatment, the benefits are many.

The Team

Genetic screening is a serious undertaking that requires a big team — from lab technicians and lab scientists to analysts and physicians. There are many ways for those interested in the field to get their foot in the door, including through MLT to MLS online programs.

The skills gained in an MLT to MLS provide graduates the ability to perform laboratory tests ranging from blood bank, hematology and molecular diagnostics to clinical chemistry, diagnostic microbiology and clinical immunology. The curriculum includes genetic analysis of bacterial and viral genomes, interpretation of laboratory results testing for genetic diseases like cystic fibrosis and the genetic alterations that are responsible for many forms of leukemia — ideal for healthcare professionals interested in learning more about genetic testing.

Learn more about MLT to MLS online programs at the University of West Florida

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