Genetic Testing and Newborn Screening

• Technology has allowed mapping of the human genome and screening for multiple genetic conditions with small drops of blood. Genetic tests are being marketed directly to consumers, bypassing the traditional role of the physician in determining which tests are appropriate for an individual patient. • As genetic testing becomes even more widely available and NBS continues to expand, ethical issues must continue to be discussed and debated, including risks of discrimination and stigmatization, respect for autonomy of individuals, privacy rights, and anxiety associated with testing. • The increase in direct-to-consumer marketing of genetic tests and the huge amount of genetic knowledge currently available make genetic counseling a vital resource that will become increasingly in demand. Primary care physicians will be called to coordinate care of patients who have genetic conditions as well as to counsel families and assist them in the decision-making process. • Counseling should be nondirective, open-minded, and respectful of the individual's autonomy and cultural values.