Turning Your Genetics into Action
4 Min. Read
Since the completion of the Human Genome Project in 2003, research and healthcare organizations across the globe have made incredible strides in understanding our genes’ impact on health. These efforts have solidified genetics as a key pathway for predicting diseases and advancing new therapies to fight them. They have also delivered actionable health data that can be used to make lifestyle and health care decisions to reduce the chances of disease.
Today, a wealth of genetic data has been collected from whole-exome and whole-genome sequencing tests and more than 26 million people have taken at-home genetic tests to determine what disease predispositions may have been passed down from their parents. Oftentimes, these tests uncover predispositions we never considered – and that’s just looking at inherited gene variants. We can also accumulate genetic variations as a result of environmental factors and age that influence chances of disease over our lifetimes.
Research suggests that as many as one in five otherwise healthy adults carrying a genetic marker for rare diseases or genetic variations associated with cancers. These unanticipated findings – which formed the basis of the widely-used ACMG 59TM panel – can reveal inherited predispositions people never knew to watch for, playing an important part in early intervention and informing decisions that improve our overall health.
What is ACMG 59TM?
Seeing the value in this data early on, the American College of Medical Genetics and Genomics (ACMG) recommended that labs performing comprehensive genetic testing include the reporting of secondary findings in addition to primary genes being tested. The resulting data led to the establishment of ACMG 59TM, a list of 59 genes connected to 31 inherited diseases, including many types of cancers, cardiomyopathy, familial hypercholesterolemia, and other conditions.
All of the diseases on this list are associated with medically approved actions that can be taken to lower overall chance of disease. It is estimated that approximately 2-3 percent of the population has a variant in one of these 59 genes that can increase their predisposition for disease, making this panel an important tool for identifying and taking steps to reduce the chances of disease developing.
Tests inherited predisposition to 31 diseases across 59 genes, including:
- Arrhythmogenic Right Ventricular Cardiomyopathy
- Brugada Syndrome
- Catecholaminergic Polymorphic Ventricular Tachycardia
- Familial Dilated Cardiomyopathy (FDCM)
- Ehlers-Danlos Syndrome, vascular type
- Familial Adenomatous Polyposis (FAP)
- Familial Hypercholesterolemia
- Familial medullary thyroid cancer (FMTC)
- Hereditary Breast and Ovarian Cancer
- Hereditary paraganglioma-pheochromocytoma syndrome (PGL/PCC)
- Familial Hypertrophic Cardiomyopathy
- Juvenile Polyposis Syndrome
- Li-Fraumeni Syndrome
- Loeys-Dietz Syndrome
- Lynch Syndrome
- Malignant Hyperthermia Susceptibility
- Marfan Syndrome
- Multiple Endocrine Neoplasia type 1 (MEN1)
- Multiple Endocrine Neoplasia type 2 (MEN2)
- MUTYH-associated polyposis (MAP)
- Neurofibromatosis type 2 (NF2)
- Ornithine transcarbamylase (OTC) deficiency
- Peutz-Jeghers syndrome (PJS)
- PTEN hamartoma tumor syndrome
- Romano-Ward Long-QT Syndrome
- Thoracic Aortic Aneurysms and/or Dissections (TAAD)
- Tuberous Sclerosis Complex (TSC)
- Von Hippel-Lindau Syndrome
- Wilson disease
- WT1-related Wilms tumor
Not Your “One-and-Done” Test: Our Genes Offer a Lifelong Exploration
While valuable, inherited genetic testing shows just a fraction of your complete health picture. This is because inherited predisposition is a static measure, and this form of testing does not provide visibility into accumulated, or somatic, genetic variations we acquire as we age. Research shows that these accumulated genetic variations can also contribute to our predisposition to disease and leave us susceptible to certain cancers, heart disease, infection, and severe inflammatory reactions, such as those associated with severe COVID-19 cases.
GoodCell is committed to offering a full spectrum of both inherited and accumulated genetic testing to help people gain a comprehensive view of their predispositions for disease. Pairing this with health screening panels targeted to your specific health concerns and the long-term storage of your cells, DNA and plasma for potential future therapeutic use, forms the basis of what we call personal biobanking.
The scientific community continues to improve our understanding of the human genome and uncover new information about genetic variations, both existing and novel. While your inherited genetics will not change, regularly testing for accumulated genetic variations and storing your healthiest cells today can help you stay ahead of your genetics and make the best health decisions for you and your family.