The Top Ten Laboratory Tests

Genetic testing has been an important component of medical care for decades but the breadth and impact of testing has been steadily increasing as medical knowledge increases, appreciation of clinical utility expands, and the cost of DNA sequencing falls. In this session, two geneticists, Dr. Katherine Rauen, who specializes in pediatric genetics, and Dr. Robert Nussbaum, who specializes in adult genetic disorders, will present their “Top Ten” scenarios for which genetic testing is indicated. Conditions were chosen based on their frequency and the likelihood that they would be seen by general pediatricians and internists, including developmental delay, autism, hereditary breast and ovarian cancer, hereditary colon cancer, and others. The session will cover a broad spectrum of genetic testing, emphasizing appropriate testing for different indications and highlighting the strengths and weaknesses of different testing modalities.

Learning Objectives:

• Describe which aspects of a patient’s history and family history raise the possibility of a hereditary condition for which genetic testing would be indicated and how genetic testing would help in the care of the patient and family.
• Recognize that different genetic tests are relevant and appropriate for different indications, reflecting the strengths and limitations of different types of testing.