Committee report

Method for evaluating conditions nominated for population-based screening of newborns and children.

Ned Calonge, Nancy S. Green, Piero Rinaldo, Michele Lloyd-Puryear, Denise Dougherty, Coleen Boyle, Michael Watson, Tracy Trotter, Sharon F. Terry, R. Howell, Committee on Heritable Disorders in Newborns Advisory Committee on Heritable Disorders in Newborns

Research output: Contribution to journalArticle

57 Citations (Scopus)

Abstract

The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children is charged with evaluating conditions nominated for addition to the uniform screening panel and consequently making recommendations to the secretary of the US Department of Health and Human Services. This report describes the framework by which the committee approaches its task. Key decision nodes include initial review of every nomination to determine whether conditions are amenable for systematic evidence review, review of systematic evidence reviews conducted by the committee's external review group, and deliberation and formal recommendation for addition or exclusion to the uniform panel. Data analyzed include the accuracy and specificity of screening and diagnostic tests for nominated disorders, the extent of predicted health benefits, harms impact on disease course, and cost from early diagnosis and treatment. The committee process is guided by approaches used by similar entities, but more flexible criteria are sometimes needed to accommodate data limitations stemming from the rarity of many of these conditions. Possible outcomes of committee review range from recommendation to add a nominated condition to the uniform panel; provide feedback on specific gaps in evidence that must be addressed before making a decision; or rejection of a nomination (e.g., because of identified harms). The committee's structured evidence-based assessment of nominated conditions supports a consistently rigorous, iterative and transparent approach to its making recommendations regarding broad population-based screening programs for rare conditions in infants and children.

Original languageEnglish
Pages (from-to)153-159
Number of pages7
JournalGenetics in medicine : official journal of the American College of Medical Genetics
Volume12
Issue number3
StatePublished - Mar 1 2010
Externally publishedYes

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Advisory Committees
Newborn Infant
United States Dept. of Health and Human Services
Population
Cost of Illness
Insurance Benefits
Routine Diagnostic Tests
Early Diagnosis
Decision Making
Therapeutics

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Calonge, N., Green, N. S., Rinaldo, P., Lloyd-Puryear, M., Dougherty, D., Boyle, C., ... Advisory Committee on Heritable Disorders in Newborns, C. O. H. D. I. N. (2010). Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children. Genetics in medicine : official journal of the American College of Medical Genetics, 12(3), 153-159.

Committee report : Method for evaluating conditions nominated for population-based screening of newborns and children. / Calonge, Ned; Green, Nancy S.; Rinaldo, Piero; Lloyd-Puryear, Michele; Dougherty, Denise; Boyle, Coleen; Watson, Michael; Trotter, Tracy; Terry, Sharon F.; Howell, R.; Advisory Committee on Heritable Disorders in Newborns, Committee on Heritable Disorders in Newborns.

In: Genetics in medicine : official journal of the American College of Medical Genetics, Vol. 12, No. 3, 01.03.2010, p. 153-159.

Research output: Contribution to journalArticle

Calonge, N, Green, NS, Rinaldo, P, Lloyd-Puryear, M, Dougherty, D, Boyle, C, Watson, M, Trotter, T, Terry, SF, Howell, R & Advisory Committee on Heritable Disorders in Newborns, COHDIN 2010, 'Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children.', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 12, no. 3, pp. 153-159.
Calonge, Ned ; Green, Nancy S. ; Rinaldo, Piero ; Lloyd-Puryear, Michele ; Dougherty, Denise ; Boyle, Coleen ; Watson, Michael ; Trotter, Tracy ; Terry, Sharon F. ; Howell, R. ; Advisory Committee on Heritable Disorders in Newborns, Committee on Heritable Disorders in Newborns. / Committee report : Method for evaluating conditions nominated for population-based screening of newborns and children. In: Genetics in medicine : official journal of the American College of Medical Genetics. 2010 ; Vol. 12, No. 3. pp. 153-159.
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