Researchers discovered that the increasing availability of newborn screening can have unintended negative consequences, especially when the patient receives equivocal results, as published in Social Science & Medicine.
Whole-genome sequencing has been increasingly adopted by healthcare systems across the world due to its ability to screen for genetic defects. This is particularly important for diseases such as cystic fibrosis (CF), of which the early discovery of the disease can mean that treatment starts early.
However, the unintended consequence of genetic screening is that it exposes a patient to information that may be vague and hence cause unnecessary distress. There are also some who believe that children are entitled to not know their genetic status because of the potential anxiety and upheaval it can cause.
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“Fears have also been expressed that healthy children will become over-medicalised (ie, monitored and prophylactically treated for conditions that may never manifest), families may experience psychosocial burden (ie, anxiety, stigma) and the child’s self-identity, and perceptions of their health, may also be negatively impacted,” the authors wrote.
The researchers decided to undertake a series of interviews to study the opinions of patients with CF, hemophilia, thalassemia, fragile X syndrome, and spinal muscular atrophy towards genetic screening. Among the views gathered were that their newborn screening experiences were “highly stressful” and “deeply emotionally charged.” A woman recounted that the newborn screening offered during her pregnancy made her feel like she needed a “seal of approval” for her baby to be considered “perfect.”
When a positive result for a genetic disease is returned, the patient’s life and his or her parents are often turned upside down. “Parents whose child was diagnosed with [CF] had to respond to an imminent health threat, which shattered their perceptions of their child’s identity, and their own as parents,” the authors wrote.
This study highlights the negatives of genetic screening, introducing concepts such as “genetic nomadism” (patients caught in-between experiences of displacement and oscillation) and “biographical disruption” (the disruption of the dream life imagined by the parents of the sick child).
Boardman F, Clark C. ‘We’re kind of like genetic nomads’: parents’ experiences of biographical disruption and uncertainty following in/conclusive results from newborn cystic fibrosis screening. Soc Sci Med. Published online April 12, 2022. doi:10.1016/j.socscimed.2022.114972