How parents judge newborn screening expansion in the genomic era: a theory-informed survey in France from the SeDeN-p3 study

This French study reveals that while parental support for expanding newborn screening to include genomic technologies is generally high, it is nuanced and primarily driven by perceived health benefits and emotional attitudes, with specific concerns regarding uncertainty and ethical implications requiring culturally adapted communication and clear governance for successful implementation.

The Gist

Imagine you are a new parent. You've just brought your baby home, and the hospital offers a tiny heel prick to test your baby for a few rare diseases. You say "yes" without hesitation because you want your child to be safe.

Now, imagine a new technology arrives. This new test doesn't just check for a few things; it reads your baby's entire "instruction manual" (their DNA) to look for hundreds of potential health issues, some of which might not show up until they are adults.

This paper is a giant conversation with 1,640 French parents to ask: "Would you still say yes?"

Here is the story of what they found, explained simply.

1. The Big Picture: "Yes, but..."

The results were surprisingly positive.

• The Standard Test (eNBS): 93% of parents said, "Yes, absolutely, screen for more diseases."
• The Genetic Test (gNBS): When researchers added the word "Genetic" or "DNA" to the description, support dipped slightly to 89%.

The Analogy: Think of the standard test like buying a basic insurance policy. Everyone wants it. The genetic test is like buying a "premium" policy that covers everything, including things that might happen 50 years from now. Most people still want the premium coverage, but a few more people start to hesitate and ask, "Is this too much information? What if I find something I can't fix?"

2. The Three Main Drivers of Decision-Making

The researchers used a "map" (called the Theoretical Framework of Acceptability) to understand why parents said yes or no. They found three main engines driving the decision:

• The Heart (Affective Attitude): This is the emotional desire to protect your child. If a parent feels, "I want to do everything possible to keep my baby healthy," they are almost guaranteed to say yes.
• The Brain (Perceived Effectiveness): This is the belief that the test actually works. If parents think, "This will actually help my child get better," they support it.
• The Compass (Ethicality): This is the moral check. "Is this right? Does this violate my values?"

The Metaphor: Imagine you are driving a car. The Heart is the gas pedal (pushing you forward), the Brain is the steering wheel (making sure you're going the right way), and the Compass is the map (checking if you're on the right road). If your heart and brain are aligned, you drive fast. If your compass starts spinning (ethical worries), you slow down, even if you still want to go.

3. The "Uncertainty" Trap

The biggest fear parents had wasn't the test itself; it was not knowing for sure.

When asked to choose between a test that finds many diseases but gives lots of "maybe" answers, versus a test that finds fewer diseases but gives clear "yes/no" answers, most parents chose the clear, fewer-diseases option.

The Analogy: Imagine you are waiting for a package.

• Option A: The delivery guy says, "I have 100 packages for you, but I'm not sure which ones are yours, and some might be empty."
• Option B: The delivery guy says, "I have 10 packages, and I know exactly which ones are yours."
  Most parents chose Option B. They didn't want the anxiety of "maybe my child has a problem" hanging over their heads. They wanted certainty.

4. Who Said Yes? Who Said No?

The study looked at who was more likely to support the new genetic testing:

• The "Yes" Crowd: Parents who work in healthcare, parents who have already dealt with rare diseases in their family, and parents who are very confident in the medical system. They see the test as a tool to solve problems they already know about.
• The "Hesitant" Crowd: Parents born outside of France and single parents. The study suggests this isn't because they don't care, but because they might feel less connected to the system or worry more about privacy and data security. They need more trust and clearer explanations.

5. The "Genetic" Label Effect

When the word "Genetic" was added, support dropped slightly. Why?
Because "Genetic" sounds heavy. It brings up fears about privacy, "designer babies," or finding out about diseases you can't cure.

• The Metaphor: It's like ordering a meal. If you order "a healthy salad," everyone says yes. If you order "a salad with a side of genetic analysis of your future health risks," some people put down their fork and think, "Do I really need to know that?"

6. What Does This Mean for the Future?

The authors conclude that while parents are generally on board with this new technology, trust is the key ingredient.

If the government or hospitals want to roll out these genetic tests, they can't just say, "It's cool tech, do it." They need to:

1. Be Clear: Explain exactly what the test finds and what it doesn't find.
2. Be Gentle: Acknowledge that finding uncertain results can be scary and stressful.
3. Be Fair: Make sure the explanation works for everyone, not just those who are already comfortable with the medical system.

The Final Takeaway:
Parents are like guardians standing at a gate. They are willing to open the gate for new technology if they believe it will keep their children safe. But they will slam the gate shut if they feel the technology is too complicated, too uncertain, or if they don't trust the people holding the keys. The technology is ready; now the challenge is building the trust to let it in.

Technical Summary

1. Problem Statement

Newborn screening (NBS) is undergoing a significant transition from expanded NBS (eNBS), driven by tandem mass spectrometry, to genomic NBS (gNBS) utilizing whole genome or exome sequencing. While these technologies promise earlier diagnosis and broader detection of genetic conditions, they introduce complex challenges regarding actionability, uncertainty, data privacy, and psychosocial impact.

Despite the technical feasibility of gNBS, its implementation relies heavily on public trust and parental consent. Existing literature often treats eNBS and gNBS separately, lacks theoretical frameworks, or relies on small, non-representative samples. There is a critical gap in understanding how parents in a universal healthcare setting (specifically France) evaluate the shift from biochemical to genomic screening, and whether the explicit mention of "genetics" alters their acceptability.

2. Methodology

Study Design:

• Type: Nationwide, cross-sectional, convergent mixed-methods survey (quantitative core with qualitative validation).
• Study Name: SeDeN-p3 (part of the broader SeDeN project).
• Location: France.
• Timeline: September 2022 – February 2023.

Participants & Recruitment:

• Total Sample: 1,640 parents.
• Cohort 1 (Postpartum): 392 parents of newborns ≤7 days old, recruited exhaustively in four maternity wards (representing the immediate decision-making context).
• Cohort 2 (General Population): 1,248 parents of children aged 7 days to 36 months, recruited via an online quota panel (CPA Études) to ensure demographic diversity.
• Inclusion: Parents aged 18–50 (mothers) or 60 (fathers), residing in metropolitan France.

Instrument & Framework:

• Theoretical Framework: The study utilized the Theoretical Framework of Acceptability (TFA) by Sekhon et al., focusing on cognitive and affective dimensions.
• Key Measures:
  • Global Acceptability: Two parallel Likert-scale items assessing support for (1) general expansion of NBS and (2) expansion specifically using a "genetic test" (to isolate the framing effect of genetics).
  • Intermediate Components: Affective attitude, perceived effectiveness, and ethicality.
  • Technical Trade-off: A forced-choice scenario asking parents to prioritize screening breadth vs. test precision (uncertainty risk).
  • Qualitative Data: Open-text comments regarding concerns and preferences.

Analysis:

• Quantitative: Descriptive statistics, Chi-square/Fisher tests, and multivariable logistic regression to identify predictors of acceptability (distinguishing between "positive" vs. "negative" and "completely" vs. "somewhat" acceptable).
• Qualitative: Thematic analysis of open-text responses, mapped against quantitative acceptability ratings to identify distinct parental profiles.

3. Key Contributions

• Theory-Informed Approach: One of the first large-scale studies to apply the TFA specifically to the transition from eNBS to gNBS, moving beyond descriptive surveys to analyze the mechanisms of acceptability.
• Framing Effect Isolation: By pairing general expansion questions with specific "genetic" framing, the study quantifies the specific psychological impact of the "genetic" label on parental willingness.
• Heterogeneity of Support: The study distinguishes between "unconditional" (completely acceptable) and "conditional" (somewhat acceptable) support, revealing that while overall support is high, the nature of that support varies significantly based on ethical concerns and tolerance for uncertainty.
• Diverse Recruitment: The combination of immediate postpartum recruitment and a broader online panel allows for a robust analysis of how the timing of the child's age influences (or does not influence) screening perceptions.

4. Key Results

Overall Acceptability:

• eNBS: Extremely high support (93.2% rated as somewhat or completely acceptable).
• gNBS: High support, but slightly lower (89.3%).
• Framing Effect: Explicitly mentioning "genetic testing" caused a modest decline in acceptability. Most shifts were from "Completely acceptable" to "Somewhat acceptable" (20.0% of respondents). Only 4.6% shifted from positive to negative.

Predictors of Acceptability (Multivariable Regression):

• Strongest Drivers:
  • Perceived Effectiveness: Belief that screening improves child health (OR ~17.7 for eNBS).
  • Affective Attitude: Positive emotional orientation toward the intervention (OR ~9.5 for eNBS).
• Differentiators of "Strong" vs. "Moderate" Support:
  • Ethical Concerns: The primary factor distinguishing "completely acceptable" from "somewhat acceptable." Parents with ethical reservations were significantly less likely to give full endorsement.
  • Uncertainty Tolerance: Parents who prioritized minimizing uncertainty were less likely to fully endorse gNBS compared to those prioritizing screening breadth.
• Sociodemographic Factors:
  • Lower Support: Foreign-born parents and single parents showed lower levels of complete acceptability.
  • Higher Support: Health sector workers and parents with a family history of rare diseases were more supportive.
  • Age of Child: No independent association was found between the age of the youngest child and acceptability after adjusting for other factors.

Qualitative Profiles:
Five distinct profiles emerged from the open-text analysis:

1. Benefit-Centred: High acceptance of both, driven by early treatment and knowledge.
2. Genomic Enthusiasts: Stronger support specifically when genetics were mentioned.
3. Conditional Supporters: Positive but require strict safeguards (data privacy, non-invasiveness).
4. Genetic Skeptics: Supported general screening but rejected the genetic component due to privacy/eugenics fears.
5. Rejecters: Rejected both based on ethical/existential grounds.

Uncertainty Aversion:

• 55% of parents prioritized minimizing uncertain results over maximizing the number of diseases screened.
• Comments highlighted fears of parental anxiety, stress, and the psychological burden of ambiguous results.

5. Significance and Implications

• Implementation Strategy: The findings suggest that gNBS is largely viewed as a logical extension of existing NBS rather than a radical break. However, the "genetic" label triggers specific anxieties. Communication strategies must explicitly address the value of genomic data while acknowledging and managing uncertainty.
• Governance is Critical: Acceptability is not just about the technology but about trust in governance. Parents require clear frameworks for data protection, sample usage, and handling of incidental findings.
• Equity Considerations: The lower acceptability among foreign-born and single parents highlights the need for culturally adapted information and targeted engagement to prevent widening health disparities.
• Policy Guidance: The study supports the move toward gNBS but emphasizes that implementation must be "proportionate." It argues for a governance model that integrates parental values, ensures transparency, and provides structured support for interpreting uncertain results.

Conclusion:
Parental acceptability for expanding newborn screening to include genomics is high in France but nuanced. While anticipated health benefits and positive emotional attitudes drive support, ethical concerns and tolerance for uncertainty act as the primary filters determining the strength of that support. Successful implementation will depend less on technical performance and more on transparent governance, culturally sensitive communication, and robust mechanisms to manage the psychosocial impact of genomic data.