Long-term follow-up after diagnosis resulting from newborn screening: Statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

被引：56

作者：

Kemper, Alex R. ^{[1
]}

Boyle, Coleen A.

Aceves, Javier ^{[2
]}

Dougherty, Denise ^{[3
]}

Figge, James ^{[4
]}

Fisch, Jill L. ^{[5
]}

Hinman, Alan R. ^{[13
]}

Greene, Carol L. ^{[6
]}

Kus, Christopher A. ^{[7
]}

Miller, Julie ^{[8
]}

Robertson, Derek ^{[9
]}

Therrell, Brad ^{[10
]}

Lloyd-Puryear, Michele ^{[11
]}

van Dyck, Peter C. ^{[11
]}

Howell, R. Rodney ^{[12
]}

机构：

[1] Duke Univ, Dept Pediat, Durham, NC 27706 USA

[2] Univ New Mexico, Dept Pediat, Albuquerque, NM 87131 USA

[3] Agcy Healthcare Res & Qualtiy, Rockville, MD USA

[4] New York State Dept Hlth, Off Med Management, Albany, NY USA

[5] Save Babies Screening Fdn, Malvern, PA USA

[6] Univ Maryland, Sch Med, Dept Pediat, Baltimore, MD 21201 USA

[7] New York State Dept Hlth, ASTHO, Albany, NY USA

[8] Nebraska Dept Hlth & Human Serv, Lincoln, NE USA

[9] Hlth Care Consultant, Columbia, MD USA

[10] Univ Texas Hlth Sci Ctr San Antonio, San Antonio, TX USA

[11] Hlth Resources & Serv Adm, Maternal & Child Hlth Bur, Rockville, MD USA

[12] Univ Miami, Dept Pediat, Miller Sch Med, Miami, FL 33152 USA

[13] Task Force Child Survival & Dev, Decatur, GA USA

来源：

GENETICS IN MEDICINE | 2008年 / 10卷 / 04期

关键词：

neonatal screening; comprehensive health care; guideline;

D O I：

10.1097/GIM.0b013e31816b64f9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

The US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children provides guidance to reduce the morbidity and mortality associated with heritable disorders, with a special emphasis on those conditions detectable through newborn screening. Although long-term follow-up is necessary to maximize the benefit of diagnosis through newborn screening, such care is variable and inconsistent. To begin to improve long-term follow-up, the Advisory Committee has identified its key features, including the assurance and provision of quality chronic disease management, condition-specific treatment, and age-appropriate preventive care throughout the lifespan of affected individuals. There are four components central to achieving long-term follow-up: care coordination through a medical home, evidence-based treatment, continuous quality improvement, and new knowledge discovery.

引用

页码：259 / 261

页数：3

共 7 条

[1]

*AAFP AAP AOA, JOINT PRINC PAT CENT

[2]

*AM AC PED MED HOM, 1920, PEDIATRICS, V10, P184

[3]

Association of Maternal Child Health Programs (AMCHP), NEWB SCREEN LONG TER

[4]

Exploring barriers to long-term follow-up in newborn screening programs [J].