By, Christine Wilson, PhD, ANP-BC, FNP-B June 24, 2022
When we think about diseases, lately everyone thinks of Covid or Covid related symptoms. A couple of years ago, people usually thought about those people they knew with heart disease, cancer, or lung disease. But what about the diseases that haven’t presented yet. What about the diseases that we are at risk for simply because we are our parents’ child?
I am talking about hereditary diseases. When a parent passes on their genetic code for a defect that causes breast cancer, mental health issues, heart disease and more. Those diseases in our genes that are waiting to rear their ugly head. What do we do about them?
How many times have you or a friend thought about a disease your mother, father, grandparents, or other family member say “run in the family?”
Laboratory testing has advanced significantly since the 21st Century especially in genetic testing with a process called “Next Generation Testing.” While that term is almost a decade old, it is still used to describe the DNA sequencing technology.
A technology that changed genomic research and in some cases, clinical practice. Prior to this technique, to determine an entire human genome (one person’s total genetic makeup) took over a decade. With Next Generation Sequencing: it takes a day.1
Life Sciences sold the first Next Generation Sequencing in approximately 2007. This allowed scientists to begin to identify genes and their mutations. However, in 2008, it was a little cost prohibitive since it is estimated to have cost $1 million.2
With more technology and scientific research, the price has been dropping dramatically. To a point in fact, that those who wish to understand their health risks are more likely to afford the testing. Don’t we often hear of women being tested for breast and ovarian cancer by having the BRCA-1 and BRCA-2 genetic testing done.
Knowledge is key. Scientists now know about a spectrum of diseases associated with genetic mutations (abnormalities of a gene). But what about going a step further? This may help identify high-risk individuals and lead to earlier disease diagnosis.3 This provides opportunities for altering lifestyle or medication management to mitigate disease symptoms.
There are now genetic panels using this Next Generation Sequencing for things such as: Cancer, Cardiac Diseases, Arrhythmias, Cardiomyopathy Comprehensive Panel, Congenital Heart Disease, Colorectal Cancer, Gastrointestinal Cancer, Lynch Syndrome, Polyposis and a Prenatal Screening for Cystic Fibrosis.
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1Behjati S, Tarpey PSWhat is next generation sequencing?Archives of Disease in Childhood – Education and Practice 2013;98:236-238.
2Mobley, I, A brief history of Next Generation Sequencing (NGS). Frontline Genomics.