This page contains PDF documents.
Get Adobe Reader
Presenter: Nancy C. Rose, MD
While prenatal screening and testing have been available for decades, Non-Invasive Prenatal Screening (NIPS) is a relatively new offering. Unlike other maternal screening tests during pregnancy, NIPS provides more specific information on risks for chromosomal abnormalities. In contrast to invasive procedures like amniocentesis or chorionic villus sampling (CVS), NIPS carries no risk of miscarriage or harm to the fetus. Through a blood sample taken from the mother, NIPS technology detects free-floating fetal DNA and analyzes it for a number of chromosomal conditions.
Presenter: Amy Brower, PhD
The human genome consists of 3 billion nucleotides or “letters” of DNA. But only a small percentage — 1.5 percent — of those letters are actually translated into proteins, the functional players in the body. The “exome” consists of all the genome’s exons, which are the portions of the genome that are actually translated into proteins within the cell. Current technology makes it possible to obtain DNA from a patient’s blood or other tissue and provide the sequence of nucleotides in the exome within several weeks.
Presenter: Cynthia M. Powell, MD
As genome and exome sequencing technologies become faster and more affordable, it is possible to consider sequencing as a newborn screening technology. The management of these volumes of data, the interpretation of these findings over time, and the ethical issues associated with this testing are subjects of active debate today.
Presenter: Beth Pletcher, MD
Pharmacogenomic tests are used to inform dosing and predict efficacy and adverse events for some therapeutic agents. In the case of cancer, both the DNA of normal tissue in the patient and the DNA of the tumor can be used to inform treatment choices. Over the past decades, a number of tumor markers have emerged as targets for therapeutics and/or as markers to predict treatment efficacy.
Presenter: Laurence McCullough, PhD
Many adult-onset genetic disorders are progressive and have long-term health consequences. When a person is at risk for such a disorder, he or she may consider undergoing genetic testing. When the consequences of the specific disorder in question are treatable, genetic testing is indicated. For disorders for which no preventative measures or treatments are available, the utility of testing has been debated.