Genetic Test Identifies Risk for Leukemia Early


Two studies recently published in the New England Journal of Medicine report that specific genetic mutations that occur later on in life are indicative of an increased risk of developing blood cancers.

Genetic testing involves several different kinds of laboratory tests evaluating several different types of mutations. Some types of mutations are those that individuals are born with. Conversely, somatic mutations are genetic mutations that occur as one ages, meaning that a person is not born with these particular mutations, but rather, genetic material undergoes mutations during life.

Two separate studies collected blood samples from healthy adult individuals. They examined genetic material and followed the adults in terms of collecting their medical records.

Both studies independently found somatic genetic mutations in adults that indicated an increased risk for blood cancers later in life.
Mutations were also found that indicated an increased risk of heart disease and overall earlier mortality.
The researchers stated that since these studies were performed independent of each other, the results provide additional confirmation to each other’s data.

The researchers also stated, however, that these mutations identified a meaningful, but not huge increased risk of developing blood cancers later in life. At his point, there might not be benefit to this knowledge as there is no way in which to prevent these diseases. However, close monitoring of these patients might be able to identify early stages of blood cancers and therefore, greater chances for a cure.


Jaiswal S, Fontanillas P, Flannick J, et al. Age-related clonal hematopoiesis associated with adverse outcomes. New England Journal of Medicine. November 26, 2014DOI: 10.1056/NEJMoa1408617.

Genovese G, Kahler A, Handsaker R, et al. Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence. New England Journal of Medicine. November 26, 2014DOI: 10.1056/NEJMoa1409405.