Norma P. Tavakoli, PhD

Dr. Tavakoli’s background is in molecular biology, clinical virology and newborn screening. She oversees the Immunoassay (IA) Laboratory within the NYS Newborn Screening (NBS) Program. The NBS Program screens over 200,000 newborns each year for over 50 different disorders. The IA Laboratory screens for four conditions: congenital adrenal hyperplasia (CAH), congenital hypothyroidism (CH), cystic fibrosis (CF; first-tier screen) and HIV exposure. Screening is performed using immunoassay methodologies to measure analyte concentrations or detect antibody levels. The IA Laboratory detects approximately 400 CH, CAH and CF cases and approximately 300 HIV exposed infants each year which provides a high workload for retesting, referring and follow-up.

In addition to public health screening, Dr. Tavakoli’s laboratory investigates refining testing methodology, algorithms and cut-offs to ensure maximum sensitivity and specificity while reducing recall rates and unnecessary referrals. The laboratory follows federal (Clinical Laboratory Improvement Amendments; CLIA) and State (Clinical Laboratory Evaluation Program; CLEP) standards for moderate/high complexity testing, including Quality Assurance/Quality Control, personnel standards and mandatory proficiency testing.

Dr. Tavakoli’ laboratory is also involved in establishing and running pilot studies to add new conditions to the NYS NBS panel. For example, her laboratory performed a 2-year pilot study to screen consented newborns for Duchenne muscular dystrophy (DMD), a genetic disorder causing progressive muscle weakness and wasting. A new testing methodology was investigated, validated and used successfully to screen over 36,000 consented newborns for DMD. Data from the pilot study was used to nominate DMD to the recommended uniform screening panel (RUSP) for universal screening in all US states.

More recently, Dr. Tavakoli has overseen the investigation and validation of a molecular assay and laboratory screening for a pilot study to screen newborns for congenital cytomegalovirus (CMV). Congenital CMV is the most common nongenetic cause of sensorineural hearing loss in children. During the one-year pilot study, over 207,000 newborns were screened for CMV, and screen-positive babies were referred to infectious disease specialists for follow-up. The study suggests that newborn screening for congenital CMV is feasible and acceptable by NYS families.