Genetics

It’s the last patient of the day—isn’t it always?—and she’s here for a first-trimester screen. This is a standard test offered in pregnancy. It’s a noninvasive way to get more information about a fetus’s risk of certain chromosome abnormalities, most commonly Down’s syndrome (also known as Trisomy 21). The ultrasound tech comes into my office Read more

As a developmental pediatrician specializing in autism, I find it difficult to leave my work at the office. Autism is everywhere these days: in front-page news, on late-night TV, as a topic at parties and on the minds of family and friends. So it was not at all surprising to me that on Thanksgiving, while Read more

I remember it well: the first day I met investment advisor Irving Kahn. At 105, he had boundless energy, a sharp intellect and a mischievous laugh that made an immediate impression. As I’ve done with many healthy centenarians in the Einstein Longevity Genes Study for which I recruited Irving, I struck up a friendship that Read more

“Doctor, this is unbelievable,” the expectant father exclaimed. “You have figured out why everyone in my family has high blood pressure!” “Well, it’s a little bit more complicated than that,” I explained to him. His wife had just had an invasive prenatal procedure and consented to have a microarray test. Chromosomal microarray technology, on which Read more

In recent years, the introduction of new DNA-sequencing technologies has heralded a revolution in genetics. These new technologies have resulted in a precipitous drop in the cost of genome sequencing; a whole genome can now be sequenced for a few thousand dollars. As costs continue to fall, genome sequencing will become increasingly commonplace, enabling the Read more