January 17, 2019
High Number Of Disease-Causing Gene Mutations Found In Infants
An unusually high number of disease-causing gene mutations in babies were uncovered in a genetic screening study that consisted of 159 babies and tested for over 5,000 genetic variations linked to disease. Approximately 9% of the babies tested possessed genetic alterations that put them at risk for childhood diseases, such as cancer, vitamin deficiencies, hearing loss, or heart defects. While the screening uncovered a case of biotin deficiency that was easily solvable, most other genetic mutations were murky, difficult to interpret, and raised more questions than answers. Cell
→Takeaway: While genetic testing in babies can be helpful to some with concrete solutions, the vast majority of disease-causing mutations found are difficult to interpret and many will never develop into the actual disease. Researchers who conducted the study do not recommend genetic screening in the general public, although for some, genetic screening might be worth it.