RT Journal Article
SR Electronic
T1 Newborn screening for cystic fibrosis
JF Canadian Family Physician
JO Can Fam Physician
FD The College of Family Physicians of Canada
SP e144
OP e152
DO 10.46747/cfp.6706e144
VO 67
IS 6
A1 June C. Carroll
A1 Robin Z. Hayeems
A1 Fiona A. Miller
A1 Carolyn J. Barg
A1 Yvonne Bombard
A1 Pranesh Chakraborty
A1 Beth K. Potter
A1 Jessica Peace Bytautas
A1 Karen Tam
A1 Louise Taylor
A1 Elizabeth Kerr
A1 Christine Davies
A1 Jennifer Milburn
A1 Felix Ratjen
A1 Astrid Guttmann
YR 2021
UL http://www.cfp.ca/content/67/6/e144.abstract
AB Objective To explore primary care providers’ (PCPs’) preferred roles and confidence in caring for infants receiving a positive cystic fibrosis (CF) newborn screening (NBS) result, as well as management of CF family planning issues, given that expanded NBS has resulted in an increase in positive results.Design Mailed questionnaire.Setting Ontario.Participants Ontario FPs, pediatricians, and midwives identified by Newborn Screening Ontario as having had an infant with a positive CF NBS result in their practice in the previous 6 months.Main outcome measure Primary care providers’ preferred roles in providing well-baby care for infants with positive CF screening results.Results Overall, 321 of 628 (51%) completed surveys (208 FPs, 68 pediatricians, 45 midwives). For well-baby care for infants confirmed to have CF, 77% of PCPs indicated they would not provide total care (ie, 68% would share care with other specialists and 9% would refer to specialists completely); for infants with an inconclusive CF diagnosis, 50% of PCPs would provide total care, 45% would provide shared care, and 5% would refer to a specialist; for CF carriers, 89% of PCPs would provide total care, 9% would provide shared care, and 2% would refer. Half (54%) of PCPs were extremely or very confident in providing reassurance about CF carriers’ health. Only 25% knew how to order parents’ CF carrier testing; 67% knew how to refer for prenatal diagnosis. Confidence in reassuring parents about the health of CF carrier children was associated with providing total well-baby care for CF carriers (risk ratio of 1.50; 95% CI 1.14 to 1.97) and infants with an inconclusive diagnosis (risk ratio of 3.30; 95% CI 1.34 to 8.16).Conclusion Most PCPs indicated willingness to treat infants with a range of CF NBS results in some capacity. It is concerning that some indicated CF carriers should have specialist involvement and only half were extremely or very confident about reassuring families about carrier status. This raises issues about possible medicalization of those with carrier status, prompting the need for PCP education about genetic disorders and the meaning of genetic test results.