Article Identifies Challenges in Tracking Clinical Genetic Services for Newborns

July 22, 2011

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"Apparent lack of a systematic method for documentation of [genetic counseling] services at the level of state NDBS [newborn dried bloodspot screening] programs makes assurance of such services difficult," write the authors of an article published in the Journal of Community Genetics online on July 6, 2011. NDBS is an essential preventive public health program in most developed countries that identifies infants at high risk for particular congenital and hereditary conditions, providing early identification of conditions for which timely interventions can help eliminate or reduce associated mortality, morbidity, and disabilities. State public health agencies are required, under Title V of the Social Security Act, to report annually on "the percent of screen positive newborns who received timely follow-up to definitive diagnosis and clinical management for condition(s) mandated by their state-sponsored newborn screening programs." However, the components of clinical management and assessment methods are not defined in the Act. There are no published data regarding the extent to which genetic services, including genetic counseling, are provided to families of newborns whose disorders were identified through NDBS. This article documents the authors' attempt to understand the issues associated with acquiring and assessing patient-level follow-up data for genetic counseling. The authors analyze patient-level data to assess the extent to which affected children are receiving this service in U.S. NDBS programs.

To expand on a 2007 survey on tracking of clinical genetic services after NDBS, the authors created a brief, second-tier survey that was submitted to the eight state NDBS programs that had previously indicated that some genetic service tracking data were available.

According to the 2007 survey, of the states that indicated systematic tracking of referral and/or receipt of genetic counseling, detailed information on the clinical genetic services provided was clearly lacking. The current list of eight state NDBS programs was ultimately reduced to three (Minnesota, Missouri, and Rhode Island) that were willing and able to collaborate in obtaining and sharing data.

De-identified data were obtained on a total of 151 patients referred to metabolic centers and 69 referred to endocrinology centers in the three NDBS programs.

The authors found that

  • In the case of infants and their families referred for a probable metabolic disorder, genetic counseling referrals were documented in all cases, and genetic counseling was documented in almost all cases (141/151; 96 percent).
  • Of the 69 patients with endocrine disorders who received care in the three states' endocrinology centers, only 8 (11.5 percent) were referred for genetic counseling services. However, although only 8 referrals could be documented, clinic records documented that 16 families received genetic counseling services (23 percent; 8 without a referral).
  • Additional information in Minnesota indicated that metabolic patients who received genetic counseling services were more likely to receive a letter/literature on genetic issues from the genetic provider, have a follow-up appointment with a genetics clinic, and have a letter sent by the genetics service provider to their medical homes than CAH patients receiving equivalent counseling services.
  • In Missouri, although endocrine patients were less likely than metabolic patients to receive a letter/literature on genetic issues or have a follow-up appointment, in the majority of cases, a letter was sent to the patient's medical home and/or state NDBS program. The same is true of Rhode Island, which reported sending letters to endocrine patients' medical homes in 100 percent of cases.

The authors conclude that "we hope these preliminary findings contribute to national discussions on the need for better service tracking and follow-up data gathering across NDBS systems." They continue, "further, we hope that consensus can be reached at the national level concerning the follow-up data to be monitored, including clinical genetic services, and the party(ies) responsible for their monitoring and maintenance within the public health system."


Livingston J, Therrell Jr BL, Mann MY, et al. 2011.Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States -- Lessons learned. Journal of Community Genetics (published online on July 6, 2011.

More information is available from the following MCH Library resources:

Genetics: Resource Brief

Newborn Screening: Bibliography of Materials from MCHLine