Some health risks are inherited from your parents. People carry genes for conditions such as cardiovascular disease and diabetes, though there’s no certainty that those with a genetic predisposition will get sick. Illness results when dozens of genes interact with environmental factors such as poor diet or cigarette smoking.
Other illnesses, such as sickle-cell anemia, Tay-Sachs disease and cystic fibrosis, are known as single-gene disorders, meaning they are caused by one mutated gene out of the thousands of normal genes in a strand of DNA, regardless of environment.
For 40 years, Dr. Louis Bartoshesky has studied how genetics affects health. In that time, he’s seen a quantum leap in understanding and the volume of genetics research.
“The progress in the past 50 years has been overwhelming,” says Bartoshesky, chair of pediatrics for Christiana Care Health System. “The promise is even greater.”
Genes determine such traits as physical appearance. Heredity, or the passing of genes from generation to generation, determines mental ability and other qualities.
Bartoshesky performs genetic scans in pregnant women at risk of bearing children with genetic disorders. He also screens newborns. Detecting a problem in the first case allows doctors and patients to plan for births in hospitals that are well-equipped to treat the mother and affected child. In the second case, doctors can plan to deal with issues such as metabolic disorders through diet.
“Good screening can result in good clinical interventions,” Bartoshesky says. “Genetics can clarify the risk. Carrying the wrong genes is no guarantee of illness.”
There are no cures for some inherited conditions, Bartoshesky notes, but understanding the genetics can help doctors improve their patients’ quality of life.
“No one can look at a Down syndrome child and do anything about the chromosome that causes it,” Bartoshesky says. “The reward is identifying children at birth with complex gene disorders, such as Down syndrome, and seeing them make great improvements. That means living long lives in happy families. That’s the most enjoyable thing.”