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Review
. 2024 May 26;16(11):2017.
doi: 10.3390/cancers16112017.

Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach

BalaSubramani Gattu Linga  1   2 , Sawsan G A A Mohammed  3 , Thomas Farrell  1 , Hilal Al Rifai  4 , Nader Al-Dewik  1   2   4   5   6 , M Walid Qoronfleh  7
Affiliations
Review

Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach

BalaSubramani Gattu Linga et al. Cancers (Basel). .

Abstract

As next-generation sequencing (NGS) has become more widely used, germline and rare genetic variations responsible for inherited illnesses, including cancer predisposition syndromes (CPSs) that account for up to 10% of childhood malignancies, have been found. The CPSs are a group of germline genetic disorders that have been identified as risk factors for pediatric cancer development. Excluding a few "classic" CPSs, there is no agreement regarding when and how to conduct germline genetic diagnostic studies in children with cancer due to the constant evolution of knowledge in NGS technologies. Various clinical screening tools have been suggested to aid in the identification of individuals who are at greater risk, using diverse strategies and with varied outcomes. We present here an overview of the primary clinical and molecular characteristics of various CPSs and summarize the existing clinical genomics data on the prevalence of CPSs in pediatric cancer patients. Additionally, we discuss several ethical issues, challenges, limitations, cost-effectiveness, and integration of genomic newborn screening for CPSs into a healthcare system. Furthermore, we assess the effectiveness of commonly utilized decision-support tools in identifying patients who may benefit from genetic counseling and/or direct genetic testing. This investigation highlights a tailored and systematic approach utilizing medical newborn screening tools such as the genome sequencing of high-risk newborns for CPSs, which could be a practical and cost-effective strategy in pediatric cancer care.

Keywords: NGS; cancer genetics; cancer predisposition syndromes; gene panel; genetic predisposition; newborn screening; pediatric cancer.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Incidence of pediatric cancer among individuals under the age of 19, as determined from data provided by the Centers for Disease Control and Prevention (CDC). (United States Cancer Statistics Data, https://wonder.cdc.gov/cancer.html) accessed on 15 March 2024 [86].
See this image and copyright information in PMC

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