Rapid genomic tests are increasingly available both pre- and postnatally and can decrease time to diagnosis compared to standard tests. Yet, there is often an added cost to their use and their utility and cost-effectiveness are not entirely established. Before pursuing testing in an expedited timeframe, gathering a patient’s values and preferences is crucial, particularly as it relates to potential decision points in a pregnancy. While genetic information may be valued at an earlier stage in a disease course and rapid results may be preferred by patients, balancing the potential increased cost against conventional genetic turnaround times is particularly important when results are not expected to have immediate management implications.
Sources:
Meng L, et al. Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management. JAMA Pediatr. 2017 Dec 4;171(12):e173438. PMID: 28973083.
Stoll K, et al. Supporting Patient Autonomy and Informed Decision-Making in Prenatal Genetic Testing. Cold Spring Harb Perspect Med. 2020 Jun 1;10(6):a036509. doi: 10.1101/cshperspect.a036509. PMID: 31615869.
Petrikin JE, et al. The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. NPJ Genomic Med. 2018;Feb 9;3:6. PMID: 29449963.
Young C, et al. Rapid Genome-wide Testing: A Review of Clinical Utility, Cost-Effectiveness, and Guidelines [Internet]. Ottawa (ON): Canadian Agency for Drugs and Technologies in Health; 2019 Sep 20. PMID: 31721549.