Newborn blood spot screening and genetic services: A survey of Minnesota primary care physicians

Diane B. Thompson, Mary J. Ahrens, Bonnie S. LeRoy, Dana Brown, Susan A. Berry

Research output: Contribution to journalReview articlepeer-review

8 Scopus citations


Purpose: To (1) obtain guidance on the preferred content and format of quick reference newborn blood spot screening information from the Minnesota Department of Health; (2) determine primary care physicians' perceptions of the benefits of genetic services; and (3) determine primary care physicians' satisfaction with genetic counseling services. Methods: A written survey was mailed to family physicians and pediatricians in Minnesota (n = 300). Results: Eighty physicians responded (28% response rate). Whereas 70% of respondents felt previous information received from the newborn screening program was adequate, 83% were interested in quick reference information. The majority of physicians preferred this information as a laminated sheet (63%). Physician procedure for an abnormal screen, newborn screening program protocol for an abnormal screen, and disease treatment and follow-up information were recommended for inclusion on quick reference. Over half of physicians agreed with the following benefits of genetic services: provide testing options (88%); evaluate family members (88%); reduce parental anxiety (87%); provide resources (83%); provide diagnostic information (76%); determine medical needs (67%); and determine emotional needs (51%). Ninety-nine percent of physicians were satisfied with genetic counseling services. Conclusions: Physicians indicated that reference material for primary care physicians should include a quick reference card with specific categories of information. Newborn screening programs should attempt to increase physician awareness of genetic services, including the subsequent medical and psychosocial benefits for their patients.

Original languageEnglish (US)
Pages (from-to)564-570
Number of pages7
JournalGenetics in Medicine
Issue number8
StatePublished - Oct 2005


  • Genetic counseling
  • Genetic services
  • Newborn blood spot screening
  • Primary care physicians
  • Tandem mass spectrometry


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