The Convergence of Genomics and Public Health: 3 Reasons Why It Matters

In April 2003, the Human Genome Project (HGP), an international, collaborative research program with the goal of achieving a complete mapping and understanding of all the genes of human beings, gave us the ability to read nature’s genetic blueprint for a human. As a result of the HGP, genomics, the study of a person’s genes (your genome or DNA blueprint) including interactions of those genes with each other and their environment, and public health, the science of protecting and improving the health of people and their communities, came together.

Why does the convergence of genomics and public health matter?

Nearly all the ailments we experience have some basis in our genes. However, prior to the completion of the HGP, doctors were only able to take genes or genetics into consideration for cases of birth defects and diseases that are caused by a change in a single gene, such as sickle cell anemia, cystic fibrosis, and some forms of muscular dystrophy. The convergence of genomics and public health is now improving our understanding of the causes, prevention, treatment, and management of cardiovascular disease, various cancers, syndromes and other illnesses. This expanded knowledge has led to the development of genomic tools and technologies that are enabling better diagnoses and health for individuals and populations.

  • Genomics is advancing cardiovascular disease diagnosis and treatment. In the not-so-distant past, doctors had to rely on well-established family histories of heart problems to predict your risk of developing heart disease. If you were aware of familial heart problems, there was little you could do to protect yourself beyond eating healthy, staying active, and having your heart function checked regularly.

Genomic technology has helped researchers learn a lot about genetic mutations linked to heart disease and connect genes to specific heart diseases. Now, if you have an extensive family history of heart problems, you have the option of genetic testing which can help you and your family understand why some forms of heart disease may continue to be prevalent generation after generation and how early intervention can help prevent or decrease symptoms of the disease. Combined, knowledge about the generational prevalence and proactive interventions can help you and your loved ones live longer, healthier lives.

  • Genomics is transforming how we study, diagnose and treat cancer. Our cells are amazing. They constantly find and fix mutations or changes in our genomes as they repeatedly divide. During rare instances, mutations bypass this process and can lead to cancer. Thanks to the HGP, we know what “normal” usually looks like for a human genome and can tell when changes have taken place that may lead to cancer. Advances in DNA sequencing technology are improving our understanding of cancer and leading to new methods of diagnosis and treatment. More and more, we can spot cancers from blood samples. And we are moving toward the ability to treat cancers based on the mutations they carry, rather than their location in the body.
  • Genomics is revolutionizing the diagnosis of syndromes before birth. Pieces of a baby’s DNA circulate in the mother’s bloodstream. Non-invasive prenatal genetic testing (NIPT) is a screening that looks at DNA from a baby’s placenta through a sample of the mother’s blood to determine the baby’s risk for genetic disorders, such as Down syndrome. Although NIPT is not a definite means of determining whether a baby will have a genetic disorder, it can help a doctor determine the next steps, such as chorionic villus sampling or amniocentesis, which examine a developing baby’s own genetic material from the amniotic fluid or placenta. These tests can identify with a high level of accuracy whether a baby will have a certain genetic disorder.

Genomics has improved our understanding of the changes in our genes that cause syndromes and diseases. Genomic technology can detect these changes well in advance of symptoms presenting by searching for them through genetic tests. This gives us the opportunity to be proactive in delaying or even stopping disease development in individuals and positively impact populations.

Want to learn more about genomics and genetic testing?

Find the recording of our webinar, “Genetic Testing—Access and Diagnosis, and Direct-to-Consumer vs. Clinical Testing,” where Concert Genetics’ Dr. Gillian Hooker, board-certified genetic counselor and molecular biologist, and I address the genetic testing landscape, access to genetic testing, and the differences between direct-to-consumer and clinical genetic tests here.



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