Skip to main content

Genetics and Pediatric Patient

  • 112 Accesses

Abstract

The field of genetics and genetic testing has exploded over the past 30 years. Clinicians trained as primary care providers may not understand the varying tests that can be helpful in a variety of clinical scenarios. The diagnostic potential of the newer technology of genetic tests in pediatric patients may enable early, timely, and specific interventions to improve clinical outcomes. As clinicians order more genetic testing, diagnostic stewardship must be followed, and the right tests are ordered on the right patient at the right time. Ensuring that the results are interpreted correctly, communicated thoroughly to the patient, and utilized to improve patient outcomes is the responsibility of the ordering clinician. Genetic testing is complicated and should not be ordered if the clinician is not knowledgeable about the different tests and how to use them. Therefore, a careful history with a three-generation family history is the clinician’s responsibility before ordering any genetic testing. A dysmorphology examination can help clarify possible diagnoses. A genetic diagnosis has life-changing implications for families. The patient has frequently been on a diagnostic journey before receiving the genetic diagnosis. Clinicians must be mindful of the ethical considerations when the results are communicated to parents. As the cost of next-generation sequencing drops, the way healthcare is delivered will continue to shift toward precision medicine with a tailored treatment for illnesses.

Keywords

  • Direct-to-consumer testing
  • Genetic test misinterpretation
  • Karyotype
  • FISH testing
  • Single gene tests
  • Chromosomal microarray
  • Next-generation sequencing
  • Whole-exome sequencing
  • Whole-genome sequencing
  • Precision medicine

This is a preview of subscription content, access via your institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • DOI: 10.1007/978-3-030-90642-9_7
  • Chapter length: 23 pages
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
eBook
USD   79.99
Price excludes VAT (USA)
  • ISBN: 978-3-030-90642-9
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
Hardcover Book
USD   99.99
Price excludes VAT (USA)

References

  • Abou Tayoun AN, Al Turki SH, Oza AM, Bowser MJ, Hernandez AL, Funke BH, et al. Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation. Genet Med. 2016;18(6):545–53.

    CAS  PubMed  CrossRef  Google Scholar 

  • Antshel KM, Russo N. Autism spectrum disorders and ADHD: overlapping phenomenology, diagnostic issues, and treatment considerations. Curr Psychiatry Rep. 2019;21(5):34.

    PubMed  CrossRef  Google Scholar 

  • Baker, Schaumburg, Munn-Chernoff. Genetics of anorexia nervosa. Curr Psychiatry Rep. 2017;19:84.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Butler MG. Imprinting disorders: a mini-review. Assist Reprod Genet. 2009;26:477–86.

    CrossRef  Google Scholar 

  • Butler MG. Imprinting disorders in humans: a review. Curr Opin Pediatr. 2020;32(6):719–29.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Char DS. Whole-genome sequencing in critically ill infants and emerging ethical challenges. Semin Perinatol. 2015;39(8):573–5.

    Google Scholar 

  • Chen E, Saul RA. Building an accurate family history, constructing a pedigree: an overview for primary care. Time out genetics webinar series presented by the genetics in primary care institute. April 26, 2012.

    Google Scholar 

  • Corfield J. Base pairs. Retrieved from https://www.britannica.com/science/base-pair on July 31, 2021.

  • Correa H. Li-Fraumeni syndrome. J Pediatr Genet. 2016;5(2):84–8.

    CAS  PubMed  PubMed Central  CrossRef  Google Scholar 

  • Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, et al. Familial adenomatous polyposis syndrome: An update and review of extraintestinal manifestations. Arch Pathol Lab Med. 2019;143(11):1382–98.

    CAS  PubMed  CrossRef  Google Scholar 

  • Farmer MB, Bonadies DC, Mahon SM, Baker MJ, Ghate SM, Munro C, et al. Adverse events in genetic testing: the fourth case series. Cancer J. 2019;25(4):231–6.

    PubMed  CrossRef  Google Scholar 

  • Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders. Ann N Y Acad Sci. 2016;1366(1):49–60.

    PubMed  CrossRef  Google Scholar 

  • Foley C, Corvin A, Nakagome S. Genetics of schizophrenia: ready to translate? Curr Psychiatry Rep. 2017;19(9):61.

    PubMed  CrossRef  Google Scholar 

  • García-Giménez JL, Seco-Cervera M, Tollefsbol TO, Romá-Mateo C, Peiró-Chova L, Lapunzina P, Pallardó FV. Epigenetic biomarkers: current strategies and future challenges for their use in the clinical laboratory. Crit Rev Clin Lab Sci. 2017;54(7–8):529–50.

    PubMed  PubMed Central  CrossRef  CAS  Google Scholar 

  • Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, et al. Expanding the boundaries of RNA sequencing as a diagnostic tool for rare Mendelian disease. Am J Hum Genet. 2019;104(3):466–83.

    CAS  PubMed  PubMed Central  CrossRef  Google Scholar 

  • Govindarajan R, Duraiyan J, Palanisamy M. Microarray and its application. J Pharm Bioallied Sci. 2012;4(2):S310–2.

    PubMed  PubMed Central  Google Scholar 

  • Grimm O, Krantz TM, Reif A. Genetics of ADHD: what should the clinician know? Curr Psychiatry Rep. 2020;22:18.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Hebbar M, Mefford HC. Recent advances in epilepsy genomics and genetic testing. F1000Res. 2020;9.:F1000 Faculty Rev:185.

    CAS  CrossRef  Google Scholar 

  • Herman I, Lopez MA, Marafi D, Pehlivan D, Calame DG, Abid F, Lotze TE. Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease. Muscle Nerve. 2021;63(3):304–10.

    CAS  PubMed  CrossRef  Google Scholar 

  • Institute for Healthcare Improvement. Retrieved from http://www.ihi.org/resources/Pages/Tools/Ask-Me-3-Good-Questions-for-Your-Good-Health.aspx on July 1, 2021.

  • Jin MW, Xu SM, An Q, Wang P. A review of risk factors for childhood leukemia. Eur Rev Med Pharmacol Sci. 2016;20(18):3760–4.

    PubMed  Google Scholar 

  • Khan Academy. Microarray. Retrieved from https://www.khanacademy.org/test-prep/mcat/biomolecules/dna-technology/v/hybridization-microarray, 2021.

  • Kim AY, Bodurtha JN. Dysmorphology. Pediatr Rev. 2019;40(12):609–18.

    PubMed  CrossRef  Google Scholar 

  • Lalonde E, Rentas S, Lin F, Dulik MC, Skraban CM, Spinner NB. Genomic diagnosis for pediatric disorders: revolution and evolution. Front Pediatr. 2020;8:373.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Latchford A, Cohen S, Auth M, Scaillon M, Viala J, Daniels R, et al. Management of Peutz-Jeghers Syndrome in children and adolescents: a position paper from the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr. 2019;68(3):442–52.

    PubMed  CrossRef  Google Scholar 

  • Lee BH, Smith T, Paciorkowski AR. Autism spectrum disorder and epilepsy: disorders with a shared biology. Epilepsy Behav. 2015;47:191–201.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril. 2018;109(2):201–12.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018;20(4):435–43.

    CAS  PubMed  CrossRef  Google Scholar 

  • Lowther C, Costain G, Baribeau DA, Bassett AS. Genomic disorders in psychiatry-what does the clinician need to know? Curr Psychiatry Rep. 2017;19(11):82.

    PubMed  CrossRef  Google Scholar 

  • Marjonen H, Auvinen P, Kahila H, Tšuiko O, Kõks S, Tiirats A, et al. rs10732516 polymorphism at the IGF2/H19 locus associates with genotype-specific effects on placental DNA methylation and birth weight of newborns conceived by assisted reproductive technology. Clin Epigenetics. 2018;10:80.

    PubMed  PubMed Central  CrossRef  CAS  Google Scholar 

  • Meier SM, Deckert J. Genetics of anxiety disorder. Curr Psychiatry Rep. 2019;21:16.

    PubMed  CrossRef  Google Scholar 

  • Merkel EA, Mohan LS, Shi K, Panah E, Zhang B, Gerami P. Paediatric melanoma: clinical update, genetic basis, and advances in diagnosis. Lancet Child Adolesc Health. 2019;3(9):646–54.

    PubMed  CrossRef  Google Scholar 

  • Mone F, Quinlan-Jones E, Kilby MD. Clinical utility of exome sequencing in the prenatal diagnosis of congenital anomalies: a review. Eur J Obstet Gynecol Reprod Biol. 2018;231:19–24.

    PubMed  CrossRef  Google Scholar 

  • Mullin N, Lewis CM. Genetics of depression: Progress at last. Curr Psychiatry Rep. 2017;19:43.

    CrossRef  Google Scholar 

  • Myers KA, Johnstone DL, Dyment DA. Epilepsy genetics: current knowledge, applications, and future directions. Clin Genet. 2019;95(1):95–111.

    CAS  PubMed  CrossRef  Google Scholar 

  • Pauly R, Schwartz CE. The future of clinical diagnosis: moving functional genomics approaches to the bedside. Clin Lab Med. 2020;40(2):221–30.

    PubMed  CrossRef  Google Scholar 

  • Payne K, Gavan SP, Wright SJ, Thompson AJ. Cost-effectiveness analyses of genetic and genomic diagnostic tests. Nat Rev Genet. 2018;19(4):235–46.

    CAS  PubMed  CrossRef  Google Scholar 

  • Petersen BS, Fredrich B, Hoeppner MP, Ellinghaus D, Franke A. Opportunities and challenges of whole-genome and -exome sequencing. BMC Genet. 2017;18(1):14.

    PubMed  PubMed Central  CrossRef  CAS  Google Scholar 

  • Petrikin JE, Willig LK, Smith LD, Kingsmore SF. Rapid whole-genome sequencing and precision neonatology. Semin Perinatol. 2015;39(8):623–31.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Pilarski R. PTEN hamartoma tumor syndrome: a clinical overview. Cancers (Basel). 2019;11(6):844.

    CrossRef  Google Scholar 

  • Qi Y, Zheng Y, Li Z, Liu Z, Xiong L. Genetic studies of tic disorders and Tourette syndrome. Methods Mol Biol. 2019;2011:547–71.

    CAS  PubMed  CrossRef  Google Scholar 

  • Ravi B, Antonellis A, Sumner CJ, Lieberman A. Genetic approaches to the treatment of neuromuscular diseases-evaluation of current practice and literature review. Neuromuscul Disord. 2019;29(1):14–20.

    CrossRef  Google Scholar 

  • Roades WA, Steuber CP. Clinical assessment and differential diagnosis of the child with suspected cancer. In: Blaney SN, Helman LL, Adamson PC, editors. Pizzo and Poplack's principles and practice of Pediatric oncology. 8th ed. Philadelphia: Lippincott; 2020. p. 106–13.

    Google Scholar 

  • Sanders SJ, Campbell AJ, Cottrell JR, Moller RS, Wagner FF, Auldridge AL, et al. Progress in understanding and treating SCN2A-mediated disorders. Trends Neurosci. 2018;41(7):442–56.

    CAS  PubMed  PubMed Central  CrossRef  Google Scholar 

  • Shearer AE, Smith RJ. Genetics: advances in genetic testing for deafness. Curr Opin Pediatr. 2012;24(6):679–86.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, et al. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016;135(4):441–50.

    CAS  PubMed  PubMed Central  CrossRef  Google Scholar 

  • Smith HS, Swint JM, Lalani SR, Yamal JM, de Oliveira Otto MC, et al. Clinical application of genome and exome sequencing as a diagnostic tool for Pediatric patients: a scoping review of the literature. Genet Med. 2019;21(1):3–16.

    CAS  PubMed  CrossRef  Google Scholar 

  • Soura E, Eliades PJ, Shannon K, Stratigos AJ, Tsao H. Hereditary melanoma: update on syndromes and management: genetics of familial atypical multiple mole melanoma syndromes. J Am Acad Dermatol. 2016;74(3):395–407.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Stoler JM. Prenatal and postnatal genetic testing: why, how, and when? Pediatr Ann. 2017;46(11):e423–7.

    PubMed  CrossRef  Google Scholar 

  • Teekakirikul P, Zhu W, Huang HC, Fung E. Hypertrophic cardiomyopathy: An overview of genetics and management. Biomol Ther. 2019;9(12):878.

    CAS  Google Scholar 

  • The Jackson Laboratory. Retrieved from www.jax.org/ccep, on July 1, 2021.

  • Yohe S, Thyagarajan B. Review of clinical next-generation sequencing. Arch Pathol Lab Med. 2017;141(11):1544–57.

    CAS  PubMed  CrossRef  Google Scholar 

  • Zoghbi HY, Beaudel AL. Epigenetics and human disease, 2018. Cold Spring Harb Perspect Biol. 2016;8(2):a019497.

    PubMed  PubMed Central  CrossRef  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Rita Marie John .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and Permissions

Copyright information

© 2022 The Author(s), under exclusive license to Springer Nature Switzerland AG

About this chapter

Verify currency and authenticity via CrossMark

Cite this chapter

John, R.M., Kenny, A. (2022). Genetics and Pediatric Patient. In: John, R.M. (eds) Pediatric Diagnostic Labs for Primary Care: An Evidence-based Approach. Springer, Cham. https://doi.org/10.1007/978-3-030-90642-9_7

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-90642-9_7

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-90641-2

  • Online ISBN: 978-3-030-90642-9

  • eBook Packages: MedicineMedicine (R0)