Australian parental perceptions of genomic newborn screening for non-communicable diseases

Area of Science:

• Genomics
• Public Health
• Pediatrics

Background:

• Newborn bloodspot screening (NBS) has advanced neonatal care since the 1960s.
• Genomic sequencing enables polygenic risk scores (PRS) for potential integration into NBS.
• This shift aims to proactively prevent noncommunicable diseases (NCDs) rather than solely treating them.

Purpose of the Study:

• To assess Australian parents' knowledge and attitudes towards incorporating PRS into NBS programs.
• To understand parental willingness to receive PRS for their children and preferred early-intervention strategies.
• To inform future policy regarding genomic NBS implementation and parental engagement.

Main Methods:

• An online questionnaire was distributed via social media to Australian parents with children under 18.
• The survey examined parental awareness of NCDs, PRS, and precision medicine.
• Participants' opinions on receiving PRS for newborns and preferred preventive interventions were collected.

Main Results:

• While 90.5% recognized "non-communicable disease," awareness of "polygenic risk score" (31.8%) and "precision medicine" (34.4%) was low.
• High interest was shown in PRS screening for allergies (77.9%), asthma (81.0%), cancer (64.8%), cardiovascular disease (65.7%), mental illness (56.7%), obesity (49.5%), and type 2 diabetes (66.7%).
• Parents favored diet and exercise as primary interventions for NCDs.

Conclusions:

• Parental acceptance of PRS in NBS is promising, despite low current awareness.
• Understanding parental preferences for interventions is crucial for successful implementation.
• Findings will guide policy development for genomic NBS in Australia, focusing on uptake and intervention strategies.