Doctors Willing to Help Specialists in CF Infant Care, But Concerns Evident

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by Steve Bryson, PhD |

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Most primary care providers (PCPs) in Ontario — family physicians, pediatricians, and midwives — voiced a willingness and confidence in providing some level of care to infants testing positive for cystic fibrosis (CF) in newborn screening programs, a Canadian survey reported.

A majority favored treating minor illnesses like infections over total care for infants with the disease, preferring to share duties with CF specialists.

However, hesitancy voiced by some in caring for babies identified as CF carriers — people who will not develop the disease, but could pass it along to their own children — due to uncertainty in their ability to reassure parents about their child’s health, and in caring for infants whose CF screening was inconclusive concerned the study’s researchers.

“Education and care guidelines for children with CF or inconclusive CF diagnoses” are needed, as they “would enable PCPs to provide well-baby and minor illness care with more confidence, particularly in rural and remote areas,” the scientists wrote.

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The survey, “Newborn screening for cystic fibrosis,” was published in the journal Canadian Family Physician.

CF is an inherited disorder caused by mutations in the CFTR gene, which leads to impaired chloride ion and water transport across cell membranes, resulting in abnormally thick mucus secretions, particularly in the lungs and digestive tract.

Newborn screening (NBS) programs can identify CF in early infancy, before the onset of clinical symptoms. Dried blood-spot samples are collected within days of birth and screened for elevated immunoreactive trypsinogen (IRT), a marker for CF.

A positive IRT result prompts a DNA analysis to identify CFTR mutations. Two faulty copies of the gene, one from each parent, are needed to have CF. People with only one mutated CFTR gene are considered CF carriers. A final diagnosis follows a sweat chloride test, which can be abnormal and signify CF, be inconclusive, or be normal and identify the child as a CF carrier.

Ongoing newborn screening programs are leading to more newborns being diagnosed with CF or as carriers, raising a need to understand the preferred roles played by primary healthcare providers in caring for these children.

Researchers at the University of Toronto surveyed PCPs to investigate their preferences and confidence in caring for children with confirmed CF, those with an inconclusive CF diagnosis, infants who are CF carriers, as well as with care management for CF families.

Questionnaires were sent to primary care providers in Ontario who were identified as having treated an infant with a positive screening result in the previous six months. Of note, midwife care in the province is limited to the first six weeks of life.

The questionnaire asked PCPs about their role in providing routine baby care, such as guidance in caring for CF infants, administering vaccines, assessing development and growth, and caring for minor illnesses, such as lung infections or diarrhea.

A total of 321 PCPs completed the survey: 208 family physicians, 68 pediatricians, and 45 midwives.

Results showed that 77% of PCPs would not on their own provide total routine baby care for those with a confirmed diagnosis, with most (68%) sharing care with CF specialists. More than half (54%) would provide total care for minor illnesses — 54% of family physicians, 85% pediatricians, and 4% of midwives.

Slightly more confidence was indicated for newborns with an inconclusive CF diagnosis — about half (49.5%) of responding PCPs favored providing total routine baby care to these children, while most (67%) would provide total care for minor illnesses.

Almost all (89%) PCPs would care for infants who were CF carriers, while 9% preferred to share baby care with a specialist and 2% to refer the case to a specialist. Most (84%) would provide total care for minor illnesses of CF carriers — 97% of family physicians, 94% of pediatricians, and 9% of midwives.

Overall, “pediatricians were more disposed to provide care independently for infants with confirmed CF or inconclusive diagnoses, while [midwifes] were less disposed to provide care independently for these children,” the researchers wrote.

Sightly over half (54%) said they were extremely or very confident in reassuring parents of CF carriers about their child’s health, and 59% said to be extremely or very confident in explaining CF carrier status for future family planning. About 25% knew how to order adult CF carrier tests, and 67% understood how to provide a referral for a CF diagnosis.

Given that these care providers were likely “more familiar with CF than average PCPs, as they had recently had an infant in their practice with a positive NBS result for CF,” findings here indicate “a need for PCP education about the meaning of inconclusive and carrier results,” the researchers wrote.

For CF carriers, PCPs were significantly more likely to provide total baby care if they were extremely or very confident in reassuring parents about their child’s health. They were also more likely to treat minor illnesses if they were moderately confident in this area.

Midwives were the least likely to provide total care. The team noted, however, that “midwives’ responses might reflect guidelines that limit their scope of practice to caring for babies without abnormalities or disorders.”

No other predictors of care were identified.

“This study found that most PCPs are willing to care for infants with a range of screen-positive CF [newborn screening] results in some capacity,” the researchers concluded. “However, providers’ lack of confidence to reassure about carrier status raises issues about its possible medicalization, prompting the need for specific PCP education about genetic disorders and the meaning of genetic test results, particularly carrier status.”