Volume 215 - Issue 8
Non‐invasive prenatal testing: clinical utility and ethical concerns about recent advances
Authors: Joseph Thomas, James Harraway and David Kirchhoffer
Med J Aust 2021; 215 (8): 384-384.e1. || doi: 10.5694/mja2.51279
Published online: 18 October 2021
Published online: 18 October 2021
In reply
In reply: We thank Liley et al1 and McLean and Wu2 for their interest in our article.3 We agree that other areas of medicine share similar ethical challenges to those we outlined about non‐invasive prenatal test (NIPT) and non‐invasive prenatal screen (NIPS) regarding consent. However, we believe that the clinical utility and ethical challenges of genetic testing in the prenatal context are different to the paediatric and adult patients, where pathology exists or where screening is done for a specific pathology.
While it is true that some patients today are better informed because they have access to knowledge via other sources, this does not entirely mitigate the power imbalance in doctor–patient relationships.4 This is exacerbated by the more subtle social norms that evolve in medicine regarding normal procedures, evident in the various tests and scans that have become common and routine pregnancy care.5
It is especially the latter phenomenon that relates to McLean’s and Wu’s2 point that, as NIPT and NIPS technologies become more widely used, there might evolve the idea that there is a duty to have a healthy normal child.6 Normal does not and should not mean perfect. While existing screening regimes aim at identifying pregnancies at risk, the power of whole genome sequencing means that all sorts of genomic variations and abnormalities could be found, even when there is no clear indication of what the structural and functional implications could be. Because power imbalances and the less obvious pressure of routinisation cannot be easily challenged in the health care industry, people may unwittingly fall prey to the fallacy that normality is perfection.7 That, we believe, would not be good for medicine or society.
Moreover, we concur that there are many validated tests based on cell‐free fetal DNA than the NIPS tests that we have referred to in our article. The scope of our article referred to NIPT, particularly in the context of screening (NIPS) for relatively rare chromosomal conditions, where both the positive predictive value and the negative predictive value of the test are conditioned by the low a priori probability of the condition (incidence) and by maternal and placental biology as well as the technical factors of the test. Testing for the RHD gene and some monogenic disorders is already established in clinical practice as diagnostic tests (NIPD).8
Competing interests
No relevant disclosures.
References
- Liley HG, Peek MJ, Daly J. Non‐invasive prenatal testing: clinical utility and ethical concerns about recent advances [letter]. Med J Aust 2021; 215: 000–000.
- McLean A, Wu K. Non‐invasive prenatal testing: clinical utility and ethical concerns about recent advances [letter]. Med J Aust 2021; 215: 000–000.
- Thomas J, Harraway J, Kirchhoffer D. Non‐invasive prenatal testing: clinical utility and ethical concerns about recent advances. Med J Aust 2021; 214: 168–170. https://www.mja.com.au/journal/2021/214/4/non‐invasive‐prenatal‐testi\ng‐clinical‐utility‐and‐ethical‐concerns‐about‐recent
- Joseph‐Williams N, Edwards A, Elwyn G. Power imbalance prevents shared decision making. BMJ 2014; 348: g3178.
- Edvardsson K, Mogren I, Lalos A, et al. A routine tool with far‐reaching influence: Australian midwives; views on the use of ultrasound during pregnancy. BMC Pregnancy Childbirth 2015; 15: 1–11.
- Ravitsky V. The shifting landscape of prenatal testing: Between reproductive autonomy and public health. Hastings Cent Rep 2017; 47 (Suppl): S34–S40.
- Juengst ET, McGowan ML. Why does the shift from “personalized medicine” to “precision health”; and “wellness genomics” matter? AMA J Ethics 2018; 20: E881–E890.
- Hayward J, Chitty LS. Beyond screening for chromosomal abnormalities: advances in non‐invasive diagnosis of single gene disorders and fetal exome sequencing. Semin Fetal Neonatal Med 2018; 23: 94–101.