Leveraging genetic data for disease prevention

7544773_SFor years, genetic data has provided valuable insights into a range of diseases, from cognition and psychiatric disorders, inherited disorders such as Down Syndrome and Tay-Sachs disease, and more.

As such, genetic testing has gained rapid popularity for finding answers to one of the most targeting and focused issues that humans face – disease prevention.

What are Genetics and Genomics?

Genetics can be defined as the study of heredity. In other words, Genetics are traits that are passed down from one generation to another.

Genomics, on the other hand, is a branch of molecular biology that includes the genes and gene products of an individual. Here, genes are analyzed on their behavior with the environment and themselves.

How are Genetic tests done?

Blood samples, skin, hair, or other tissue are used to perform genetic tests. Depending on the suspected disorder, these samples are scrutinized by laboratory experts to detect abnormal chromosomes changes, proteins, or DNA. These tests can identify genetic conditions and an individual’s risk of developing or passing a genetic disorder in the future. There are over 1,000 genetic tests such as molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests.

Is Genetic Data really useful?

In short? Yes.

Genetic data is considered a powerful source to manage and care for people who have common diseases and inherited diseases. Researchers spend a lot of effort to study genetics in order to increase knowledge regarding diseases such as diabetes, cardiovascular disease, and obesity.

Genetic nature is defined from the day a baby is born. These genetic contributions remain until death. Therefore, using genetic data can be used to pinpoint diseases in the early stages. As a result, genetic data has become more fruitful than conventional methods such as testing blood pressure or glucose levels.

Impact of Genetic Data towards disease prevention

When someone is given a particular drug treatment, they respond differently from one another. This way the drugs’ potential can be authenticated depending on the person. This genetic variation study is called Pharmacogenomics.

This is the most reliable proof that genomics’ contribution towards creating individualized treatments and developing clinical care. Not only now, but even in the past, genetic data has been proven to impact the accuracy of finding correct medications for people. For instance, the studies between genetic variants and drug responses have managed to discover Warfarin. Warfarin is a powerful anticoagulant medication that has been recognized to prevent stroke and venous thromboembolism. Not to mention, this medication is prescribed worldwide.

Thanks to pharmacogenomics, medicine labeling has been updated with more accurate information as well. For example, Irinotecan, which is used as an anti-cancer chemotherapy drug, and variations in the gene UGT1A1 were tested. A dosing reduction label update was suggested according to the data. Genetic data revealed that patients with certain genotypes are prone to the risk of neutropenia (a condition where a person’s white blood cell count is abnormally low). Another example is the genotyping of variants in HLA-B*1502, which can potentially identify patients who are at risk for rare and fatal skin diseases such as Stevens-Johnson syndrome and toxic epidermal necrolysis.

New medical discoveries from Genetic Data

  1. Prevention of Preeclampsia and Eclampsia

A research team at Baylor College of Medicine has discovered that certain maternal and fetal gene variants are more prone to preeclampsia. Preeclampsia leads to organ dysfunction in mothers and growth complications in babies. This happens because of blood pressure rising up suddenly. If this instantaneous elevation of blood pressure isn’t controlled, disorders such as eclampsia can threaten the life of the patient with fatal seizures. Preeclampsia and Eclampsia are responsible for 10% – 15% maternal deaths.

The causes of Preeclampsia are still unknown and this is among one of the most difficult conditions to predict. However, this particular research conducted by the Department of Obstetrics & Gynecology at Baylor suggests that this genetic signature can potentially support women who are at risk. Moreover, this condition can be prevented by prior preparation.

  1. Breast Cancer prevention

Major Genetic study done by involving more than 450 departments and institutions from all over the world has discovered that some women with particular DNA are at a higher risk than others to have breast cancer in the future. According to Dr. Laura Fachal from the Wellcome Sanger Institute, the studies that had been conducted in the past revealed that DNA plays a huge role in breast cancer. However, it is important to gather the exact genes that are involved. This new study, on the other hand, was conducted by looking into 110,000 breast cancer patients. After the DNA comparison of these patients, researchers identified 352 risk variants. Although the exact number of targeted genes is unclear, they found 191 genes. The crucial point is, per five genes that are newly discovered, less than one had been previously identified and studied.

According to Dr. Alison Dunning from the University of Cambridge, this new study led the researchers to acquire a more intricate map of what causes and develops breast cancer. This genetic study has opened the doctors and clinicians the path of providing women a clear picture of their level of risk towards breast cancer. Knowing the genetic risk, prevention can be started sooner than before.

  1. Preventing blindness

As stated by Koji Nishiguchi, associate professor in the Department of Advanced Ophthalmic Medicine at Tohoku University Graduate School of Medicine, they have managed to develop a new gene therapy to treat blinded mice. Mice that are affected by inherited retinal degeneration were used in the experiment. The results showed a great deal of visual restoration in them. This study has assured this method’s potential for clinical application for humans with similar conditions.

Nishiguchi’s team is planning to have a clinical trial for the new therapy that is being developed to treat humans with retinitis pigmentosa by 2025. Retinitis pigmentosa is a rare condition that causes peripheral vision loss and difficulties to see clearly at night. This particular therapy will target the patients who couldn’t overcome the disease with conventional gene therapy.


Undoubtedly, Genetic Data studies have supported disease prevention in the past. Now, with the pre-eminent science and technology, it’s just a matter of time until the researchers develop directive medications for diseases.

We understand that the study of genetics can be an overwhelming topic of undertaking and we’re here to help. Please contact us today for more information.