Adults with CF want more genetic counseling, survey finds
Many have questions about fertility, pregnancy, CF treatment effects
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Most adults with cystic fibrosis (CF) surveyed at a U.S. care center had never received genetic counseling, and many had unanswered questions about fertility, pregnancy, and family planning.
Among more than 100 respondents, 71% had not received genetic counseling, and 27% had never heard of it. Fifty-four percent of those who had not received counseling said they thought it would be moderately or very helpful.
“Our study provides a framework for considering reproductive health needs among people with CF in the modern era and highlights opportunities for integrating education into routine CF care,” the researchers wrote.
The study, “Assessing the need for reproductive genetic counseling among adults with cystic fibrosis,” was published in the journal BMC Pulmonary Medicine.
CF is caused by mutations in the CFTR gene that disrupt the movement of salt and water in and out of cells and lead to the buildup of thick, sticky mucus. The disease is best known for affecting the lungs and digestive system, but it can also involve other organs, including the reproductive system. As increasingly effective CF treatments allow patients to live longer and healthier lives, reproductive health and family planning have become more important aspects of CF care.
Fertility and pregnancy
Nearly all men with CF are infertile because they are born without the tubes that normally carry sperm from behind the testes, a condition called congenital bilateral absence of the vas deferens. Biological parenthood may still be possible through sperm retrieval and assisted reproductive technologies. Women with CF are generally fertile, although some experience reduced fertility, and pregnancy rates historically have been lower than in the general population.
The arrival of new therapies, such as CFTR modulators, has led to better overall health and more opportunities for reproduction, “but whether patient perspectives have evolved in the modern era of CF therapeutics has also not been investigated thoroughly,” the scientists wrote.
Genetic counselors can help people understand how CF is inherited and discuss reproductive options, including testing a partner to determine whether they carry a CF-causing mutation, prenatal testing, and the use of assisted reproductive technologies. However, although guidelines recommend incorporating genetic counselors into adult CF care, access remains inconsistent.
A team led by researchers at the University of Washington aimed to identify gaps in sexual and reproductive health knowledge and determine what types of genetic counseling adults with CF consider most useful in the current treatment era.
They surveyed 237 adults receiving care at a single adult CF center between April and July 2025. A total of 116 (median age 35; 41% men; 97% white) completed the survey.
Almost all patients (92%) reported taking a CFTR modulator, with 72% on Trikafta.
About one-third of respondents (32%) were parents of at least one child. Another 24% planned to have children in the future, and 20% were undecided about family plans. Nearly two-thirds (64%) said having CF had influenced their decision about whether to have children.
Although 73% had heard of genetic counseling before the survey, only 29% said they had received it. Among those who had received counseling, 65% called the experience “very helpful,” and another 18% considered it “moderately helpful.”
Among participants who had not received genetic counseling, 54% said they expected it would be moderately or very helpful. Those who viewed counseling as least useful were overwhelmingly people who did not plan to have children.
When respondents ranked the importance of reproductive health topics, the effect of CFTR modulators on fertility or pregnancy topped the list, with 66% saying learning about this would be “very helpful.” Carrier screening for partners and family members was also a priority, with 65% ranking it “very helpful.”
Open-ended questions reveal concerns, uncertainty
A qualitative analysis of two open-ended questions revealed several recurring concerns. Some people were unsure whether they were fertile, and others worried about whether pregnancy or caring for a child might affect their own health. Participants also raised concerns about being healthy enough to care for children over the long term and about the financial demands of managing CF and parenthood.
“Even on modulators, I need more sleep, and have other chronic conditions that are, if not caused by CF, exacerbated by CF,” said a female participant.
Another recurring concern was passing CF to a child. This made partner carrier screening especially important to some respondents.
At the same time, some participants said newer CF treatments had created opportunities for parenthood that previously seemed unrealistic. “Now with the new modifiers available to the CF community, I think I would have had children,” one man said.
Yet uncertainty remained about how modulators affect fertility, pregnancy, and breastfeeding. Several respondents also described a lack of informed discussions about reproductive health with CF clinicians and other healthcare providers.
The investigators noted that their study had limitations, including its single-center design, the predominantly white and English-speaking study population, and the inclusion of adults past reproductive age.
But overall, the study highlights the need for “reproductive genetic counseling and education among adults with CF,” the researchers wrote.
When genetic counselors are unavailable, “discussions about sexual and reproductive health should not be delayed,” the investigators said. Clinicians, nurses, social workers, and other CF team members can begin conversations about fertility, contraception, pregnancy planning, and reproductive genetic options, with referral to genetic counselors when more specialized guidance is needed, they said.
“The current healthcare landscape of CF is changing with new, effective treatments, and CF care teams will need to adapt to support the evolving needs of CF patients,” the team concluded.
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