Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center

Wheeler, Patricia G.; Smith, Rosemarie; Dorkin, Henry L.; Parad, Richard B.; Comeau, Anne Marie; Bianchi, Diana W.

doi:10.1097/00125817-200111000-00006

Cited by 39 publications

(33 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…23,29,30,[63][64][65] Positive CF Diagnosis When the CF NBS result indicates a high likelihood of CF, the NBS program should alert the clinical care center to allow the parents to meet with a CF clinician at the time of the sweat-test visit. Ideally, the parents of any infant with a positive sweat-test result should be able to meet with a CF clinician before leaving the clinical care center.…”

Section: Borderline Sweat-test Resultsmentioning

confidence: 99%

“…• explain the significance of the presence of a single CFTR mutation, if relevant, for future reproductive decision-making for both the child and other family members, including parents and siblings, 30 and arrange for testing of the parents and family members if desired; and…”

Section: Positive Cf Nbs Reportmentioning

confidence: 99%

“…71 Some states ensure that parents of screen-positive newborns have access to genetic counseling at CF care centers on the day of the sweat test. 29,30 Same-day counseling may be provided before sweat testing, while parents await results, or (optimally) after results of the sweat testing are available. However, availability and funding of genetic counseling services varies.…”

Section: Genetic Counselingmentioning

confidence: 99%

“…23 The families of infants with a positive screening result but not CF could experience unnecessary anxiety before the diagnostic result, 26,27 and doubts regarding the health of their normal infant may persist even afterward. [28][29][30][31] Recognition of these risks is vital for optimal NBS-program design.…”

mentioning

confidence: 99%

See 3 more Smart Citations

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

et al. 2007

Self Cite

View full text Add to dashboard Cite

Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic fibrosis newborn screening, outlines the steps necessary for success based on the experience of existing programs. Planning should begin with a workgroup composed of those who will be responsible for the success of the local program, typically including the state newborn screening program director and cystic fibrosis care center directors. The workgroup must develop a screening algorithm based on program resources and goals including mechanisms available for sample collection, regional demographics, the spectrum of cystic fibrosis disease to be detected, and acceptable failure rates of the screen. The workgroup must also ensure that all necessary guidelines and resources for screening, diagnosis, and care be in place prior to cystic fibrosis newborn screening implementation. These include educational materials for parents and primary care providers; systems for screening and for providing diagnostic testing and counseling for screen-positive infants and their families; and protocols for care of this unique population. This summary explores the benefits and risks of various screening algorithms, including complex situations that can occur involving unclear diagnostic results, and provides guidelines and sample materials for state newborn screening programs to develop and implement high quality screening for cystic fibrosis.

show abstract

Section: Borderline Sweat-test Resultsmentioning

confidence: 99%

Section: Positive Cf Nbs Reportmentioning

confidence: 99%

Section: Genetic Counselingmentioning

confidence: 99%

mentioning

confidence: 99%

See 2 more Smart Citations

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

et al. 2007

Self Cite

View full text Add to dashboard Cite

show abstract

“…This is also a justification provided by the larger community. 19,[49][50][51][52] In general, the majority of pediatricians did not want to test their own infants for any of these conditions, although they were more closely divided on screening for CF (41% in favor). Pediatricians were more likely to support screening in the general population than they were interested in testing their own children.…”

Section: Discussionmentioning

confidence: 99%

Pediatricians' Attitudes Toward Expanding Newborn Screening

2005

View full text Add to dashboard Cite

ABSTRACT.Objective. Traditional population screening focuses on conditions for which early treatment prevents severe morbidity and mortality. The classic example in pediatrics is newborn screening for phenylketonuria, which began in the 1960s. In 1968, Wilson and Jungner delineated 10 criteria that would justify population screening. These criteria have been reaffirmed by many newborn screening task forces as the standard for adding conditions to newborn screening programs. Today, however, some newborn screening programs are expanding to include conditions that may not meet all of the traditional screening criteria. Little is known about pediatricians' attitudes toward expanding screening. We examine the attitudes of pediatricians and pediatric subspecialists toward screening for cystic fibrosis (CF), Duchenne muscular dystrophy (DMD), fragile X, and type 1 diabetes.Methods. A cross-sectional survey was conducted of 600 pediatricians, including those who are members of the section of genetics, endocrinology, pulmonology, and neurology of the American Academy of Pediatrics. For each condition, pediatricians were queried about (1) testing high-risk infants, (2) newborn screening, and (3) population screening or testing beyond the newborn period. Demographic data were also collected.Results. A total of 232 (43%) of 537 eligible pediatricians returned surveys. More than 75% support testing high-risk infants for all conditions except type 1 diabetes. CF was the only condition for which >50% supported newborn screening. Newborn screening was preferred over screening older infants for all conditions except fragile X. Subspecialty affiliation did not have a significant impact with respect to attitudes about testing highrisk children, newborn screening, or screening beyond infancy. We analyzed the data by the number of patients with the queried condition under the physician's care and by the number of affected family members. Neither aspect was significant. We also analyzed the data by gender, by year of residency graduation, and by geographic location. None of these factors revealed significant differences in responses. For each condition, 8% to 41% of physicians would personally choose to test their own infant. We found that physicians' opinion about what they would want for their own children correlated with their attitude about population newborn screening. Those who would personally choose testing of their own infants were highly likely to support newborn screening for CF (98%), DMD (94%), and fragile X (98%), but only 78% of those who would personally opt for newborn screening of type 1 diabetes would also endorse population-based screening. This was statistically significant for each condition. Those who would choose not to test their own infants were significantly less likely to support newborn screening of the general population. T raditional population screening focuses on conditions for which early treatment prevents severe morbidity and mortality. The classic example in pediatrics is newborn screening for phe...

show abstract

Integration of new genetic diseases into statewide newborn screening: New England experience

Comeau

Larson²,

Eaton³

2004

American J of Med Genetics Pt C

Self Cite

View full text Add to dashboard Cite

Using a data set of newborn screening specimens tested by the New England Newborn Screening Program (NENSP) between January 1999 and February 2003, we analyzed the number of infants with positive newborn screening results and determined how many positive screening results were due to a recent multiplex expansion of services in some of the states. We found that for the subset of the 4-year cohort for which there was a 233% increase in the number of disorders screened (from 9 to 30 disorders), there was a 31% increase in the number of affected infants identified by the screen. We project that if all states in the program expanded their services and if the incidence of disorders is similar across states, there would be an observed 45% increase in the number of infants detected by the screen and a 43% increase in the number of infants for whom the screening algorithm would require some contact with the infants' health care provider. Furthermore, of those requiring contact, we project a 300% increase in the number of screened-positive infants who would be referred to tertiary care centers for a diagnostic evaluation. Increased contact with the medical community from additions to newborn screening as demonstrated in this report emphasizes the need for an approach in which the newborn screening program assures coordinated communications between birth units, laboratory, primary health care providers, and specialists.

show abstract

Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center

Cited by 39 publications

References 12 publications

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

Pediatricians' Attitudes Toward Expanding Newborn Screening

Integration of new genetic diseases into statewide newborn screening: New England experience

Contact Info

Product

Resources

About