Non‐invasive prenatal testing: clinical utility and ethical concerns about recent advances

To the Editor: The scope of genetic testing has advanced exponentially in the past 5–10 years and conversations between patients and clinicians are becoming more nuanced. This highlights the value of genetic professionals who are skilled at ensuring patients’ understanding of genetic testing to satisfy the legal requirements for consent.1,2 Other complexities in the setting of prenatal testing include finding of variants of uncertain significance, variable penetrance or expressivity associated with most genetic conditions, and potential future treatments for adult‐onset conditions uncovered by testing.

Thomas and colleagues3 referred to power imbalance between a doctor and a patient as a factor that could ethically undermine consent for non‐invasive prenatal screening (NIPS). However, this power imbalance exists across all facets of medicine. Patients today are more medically savvy owing to easy access to information technology, thus reducing the knowledge gap (and the power imbalance). A doctor’s duty of care is to provide accurate and appropriate information that is understood by the patient in order to make a valid consent.2 There is no alternative to a valid consent for NIPS than one that is built upon an “I and thou” doctor–patient relationship.4 This relationship is a dynamic and shared experience, focusing not on the knowledge but on supporting expectant parents in making value‐consistent decisions.5

Uncertainties are not unique to NIPS; perinatal uncertainties are not new to either genetics or medicine, which can arise when a diagnosis is not made as well as when a diagnosis is made.

Another ethical concern regarding NIPS is access and equity. As there is no Medicare funding for NIPS, should genetic disorders be screened out by the rich, would genetic conditions become the disease of the poor? This has implications for the society as a whole. Is there a duty to have a healthy child versus should we value diversity and disability? Would there be less social or medical support should society become less tolerant of individuals with disability?

Genetics and other areas of medicine are evolving rapidly; nevertheless, the shared ethical considerations, including valid consent, uncertainty, and access equity, have remained to shape the moral principles of our society in this genomics era.