Carrier screening for CF unmasks newborn screening deficiencies

see Cystic fibrosis carrier screening effects on birth prevalence and newborn screening

In a study that spanned 21 years, a group of Italian researchers found that carrier screening for cystic fibrosis (CF) significantly reduced the number of children born with the disease. However, carrier screening unmasked deficiencies in the newborn screening (NBS) programs in regions with carrier screening. In those regions, the ratio of false-positive or uncertain CF diagnoses to confirmed cases identified through NBS also increased, suggesting deficiencies in NBS test accuracy. In Italy, structured carrier screening differs by region. The researchers compared two regions: the eastern region, which routinely offered carrier screening, and the western region, which did not. Over the study period, the research team tallied 150 carrier couples and 259 newborns with a positive CF diagnosis. Over the study period, the number of children born with CF decreased 15%—from 1 in 2,730 to 1 in 14,200 in the region with carrier screening—whereas no significant change occurred in the region without carrier screening. The researchers noted that the study provides no information about reproductive choices that carrier couples made because preimplantation genetic diagnosis and in vitro fertilization were illegal in Italy for most of the study period. However, they did note that only two infants with CF were born to carrier couples detected through screening. The researchers also noted that the low number of CF births might, in the long term, influence whether NBS for CF continues to be offered, since infants are identified and evaluated, only to have false-positive results or inconclusive diagnoses. —Karyn Hede, News Editor

A call for better rare disease therapies in real-world clinical settings

see Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?

The current focus on development of interventions and treatments for rare diseases is producing new options for patients, but getting those treatments to patients in real-world clinical settings remains challenging. In this issue, Potter et al. argue that future research must “focus on appropriate patient-oriented outcomes, include robust study designs that can accommodate real-world decision priorities, and involve effective stakeholder-engagement strategies.” They point to the documented gap between treatment outcomes observed in highly controlled trials and those experienced by patients in community-based health-care settings as a rationale for investment in research to address translation of biomedical discoveries into improved population health. Because most new treatments are likely to be considered incremental improvements, they argue, care must be taken in any study design to ensure that interventions can be effectively embedded in real-world systems of care. The authors suggest that study designs take into account the expected range of therapies and health services available to patients, such as diet therapy, physiotherapy, family support and counseling, and telehealth. In addition, they suggest study designs that evaluate long-term impacts of care, including potential adverse effects, and determine how patient variation and disease characteristics influence treatment effectiveness. —Karyn Hede, News Editor