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Genes are by no means a crystal ball, but they can be used to forecast susceptibility to a variety of conditions, from cancers and heart disease to chronic inflammatory conditions. As such, they can help healthcare professionals and patients make better care decisions.

Generally speaking, whenpeople today think about genetic predispositions, theythink about their parents and family trees.However, those inherited genetic variationsbequeathed by ourparents and grandparents are only a portion ofacomplete genetic picture and often not the most revealing one.Thegenetic variationsmost commonly linked to disease are actually?not?the ones from your parents; rather, they areacquiredas one ages.

Mom and Dad Cant Take All the Heat forAll Health ChallengesUnlike inheritedgenetic predispositions,accumulatedgenetic changes(otherwise known as somatic)are the result ofenvironmental influences, such as smoking, chemicals or ultra-violet radiation. They can also stem from common errorscells make as they duplicate themselves over time.The expansion of these detrimental variations cause damage to DNA within blood cells,aphenomenon known as clonal hematopoiesis (CH), whichincreases susceptibility to many diseases, including many types of cancer.

Germline variations in genes still indicate potential vulnerabilities, with one in five healthy adults estimated to carry an inherited marker. However, these genetic abnormalities represent a static metric. Once individuals are tested for inherited variations, they will never need to do so again. Whats more, many of the predispositions that surfaced through this testing can be addressed through lifestyle and medical interventions. It boils down to being aware of them.

Somatic changes, on the other hand, can happen at any stage of life. While many of these changes have no clinical ramifications, some of them can exacerbate predispositions inherited from our parents because the disease is often the result of multiple genetic variations banding together, inherited or acquired.

The chances of an acquired variation accumulating and accelerating within the body increase significantly as we age, generally after the age of 40 and growing each decade. This could drastically change a patients health profile, casting inherited vulnerabilities into a new light without any warning or symptoms.

Understanding Accumulated VariationsA growing body of research links somatic changes to an increased likelihood of blood cancers and cardiovascular disease, both heart disease and stroke. The same research reveals that these accumulated genetic variations contribute to infection and severe inflammatory reactions, some of which are associated with severe cases of Covid-19.

A study conducted byJAMA Cardiologyexplores theconnectionbetween accumulated genetic change anda pro-inflammatory immune response that resembles the exaggerated cytokine release syndrome (CRS)experienced by patients with severeCovid-19.Notably,the researchfoundthat patients who experienced the most extreme inflammatory response carried variationsTET2 and DMNT3A, both of which accumulate in genes over time.

Another research report published inCancersanalyzingpatients hospitalized with severe Covid-19disease found a much higher frequency of clonal hematopoiesis (CH) of indeterminate potential (sometimes called clonal hematopoiesis of indeterminate potential or CHIP) ),an age-associated condition in cells,in all age groups.

Additionally,accumulatedDNA damage to the JAK2 gene has been found in alargeproportion of cancer-free patients with venous thrombosis, a known complicationof Covid-19.While preliminary,the findingsdemonstratecompellingcorrelations betweensomaticgenetic change andCovid-19 severity that could be used to identify patients prone to complications early, intervene soonerand inform treatment strategies.

It is believed thatproviders can applythese correlations to other areas of care toassess an individuals susceptibilityto a wide range of diseases, and ultimately improve and extend quality of life.

Improving Care Decisions with Somatic insightsAugmenting currenthealth assessmentsand care strategies with accumulated geneticdatacan open new pathways for disease detection, response and prevention.The scientificand medicalcommunitieshaveonly scratched the surface ofwhat we can learn from these insights. Even so,understanding somatic damage showsgreatpromise for helping individualsstay ahead of their health concerns and respond in a more informed way.

Photo: Andy, Getty Images

See the article here:
Accumulated genetic variations: What they are and why they matter to a complete health picture - MedCity News

This entry was posted on December 4, 2020 at 12:31 am and is filed under Genetics. You can follow any responses to this entry through the RSS 2.0 feed. Both comments and pings are currently closed. |