Abstract
Genetic counseling is an important component of healthcare that provides individuals and families affected by rare genetic illnesses with important assistance and direction. Genetic counselors work with patients and families to provide information on the disease’s genetic basis and potential dangers and advantages of genetic testing and to assist families in making informed decisions. Genetic counselors can assist them in receiving the best possible care and support by collaborating with healthcare practitioners and researchers. Numerous genetic tests available can help families affected by rare genetic illnesses make educated reproductive decisions, allowing them to make more informed decisions about lowering the chance of passing on the condition to future generations. Several obstacles are still involved with genetic testing for uncommon diseases, including issues relating to result interpretation, testing access, and testing cost. Hence, we need to go deeper into the specific issues and factors involved in providing genetic counseling. In this chapter, we will look at the most recent technological advances in genetic testing and how they affect diagnosis and therapy. This chapter also discusses the psychological and emotional consequences of rare genetic illnesses, as well as the need to provide proper support and resources to individuals and families.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Afzal S, Zahid M, Rehan ZA, Fayzan Shakir HM, Javed H, Aljohani MMH, Mustafa SK, Ahmad M, Hassan MM (2022) Preparation and evaluation of polymer-based ultrasound gel and its application in ultrasonography. Gels 8(1):42. https://doi.org/10.3390/GELS8010042
Anomaly Scan (2023) The Fetal Medicine Centre. Available online: https://fetalmedicine.com/anomaly-scan/ (accessed on 24 Mar 2023)
Bailey-Wilson JE, Wilson AF (2011) Linkage analysis in the next-generation sequencing era. Hum Hered 72:228��236. https://doi.org/10.1159/000334381
Bamshad MJ, Magoulas PL, Dent KM (2018) Genetic counselors on the frontline of precision health. Am J Med Genet C Semin Med Genet 178:5–9. https://doi.org/10.1002/AJMG.C.31610
Bedinghaus JM (2002) Genetic testing. N Engl J Med:351–356. https://doi.org/10.1056/NEJMOA012113
Benn PA, Chapman AR (2010) Ethical challenges in providing noninvasive prenatal diagnosis. Curr Opin Obstet Gynecol 22:128–134. https://doi.org/10.1097/gco.0b013e3283372352
Biesecker BB (2001) Goals of genetic counseling. Clin Genet 60:323–330. https://doi.org/10.1034/J.1399-0004.2001.600501.X
Bignell GR, Huang J, Greshock J, Watt S, Butler A, West S, Grigorova M, Jones KW, Wei W, Stratton MR et al (2004) High-resolution analysis of DNA copy number using oligonucleotide microarrays. Genome Res 14:287–295. https://doi.org/10.1101/GR.2012304
Caceres V, Murray T, Myers C, Parbhoo K (2022) Prenatal genetic testing and screening: a focused review. Semin Pediatr Neurol 42:100976. https://doi.org/10.1016/J.SPEN.2022.100976
CD Genomics (2020) Sanger sequencing steps and method. Available online: https://www.sigmaaldrich.com/IN/en/technical-documents/protocol/genomics/sequencing/sanger-sequencing (accessed on 15 Mar 2023)
Cornelis SS, Runhart EH, Bauwens M, Corradi Z, De Baere E, Roosing S, Haer-Wigman L, Dhaenens CM, Vulto-van Silfhout AT, Cremers FPM (2022) Personalized genetic counseling for stargardt disease: offspring risk estimates based on variant severity. Am J Hum Genet 109:498–507. https://doi.org/10.1016/J.AJHG.2022.01.008
De Wert GMWR, Dondorp WJ, Knoppers BM (2012) Preconception care and genetic risk: ethical issues. J Community Genet 3:221–228. https://doi.org/10.1007/s12687-011-0074-9
Delatycki MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW, Henneman L, Ioannides AS, Kirk E, Laing N et al (2020) International perspectives on the implementation of reproductive carrier screening. Prenat Diagn 40:301–310. https://doi.org/10.1002/pd.5611
Di Scipio M, Tavares E, Deshmukh S, Audo I, Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Tang CY, Mollica A (2020) Phenotype driven analysis of whole genome sequencing identifies deep intronic variants that cause retinal dystrophies by aberrant exonization. Invest Ophthalmol Vis Sci 61:36–36. https://doi.org/10.1167/IOVS.61.10.36
Dive L, Newson AJ (2021) Ethical issues in reproductive genetic carrier screening. Med J Aust 214:165–167. https://doi.org/10.5694/mja2.50789
Dive L, Archibald AD, Newson AJ (2022) Ethical considerations in gene selection for reproductive carrier screening. Hum Genet 141:1003–1012. https://doi.org/10.1007/S00439-021-02341-9/METRICS
Dumars KW, Dalrymple GT, Murray AK (1976) Prenatal diagnosis and genetic counseling. West J Med 124:377–387. https://doi.org/10.1007/978-3-031-07524-7_2/COVER
Farmer MB, Bonadies DC, Mahon SM, Baker MJ, Ghate SM, Munro C, Nagaraj CB, Besser AG, Bui K, Csuy CM et al (2019) Errors in genetic testing: the fourth case series. Cancer J (United States) 25:231–236. https://doi.org/10.1097/PPO.0000000000000391
Garber AP, Hixon HEC (1990) Prenatal genetic counseling. Clin Perinatol 17:749–759. https://doi.org/10.1016/S0095-5108(18)30543-8
Genoff Garzon MC, Rubin LR, Lobel M, Stelling J, Pastore LM (2018) Review of patient decision-making factors and attitudes regarding preimplantation genetic diagnosis. Clin Genet 94:22–42. https://doi.org/10.1111/cge.13174
Henneman L, Borry P, Chokoshvili D, Cornel MC, Van El CG, Forzano F, Hall A, Howard HC, Janssens S, Kayserili H et al (2016) Responsible implementation of expanded carrier screening. Eur J Hum Genet 24:e1–e12. https://doi.org/10.1038/ejhg.2015.271
Hu T, Chitnis N, Monos D, Dinh A (2021) Next-generation sequencing technologies: an overview. Hum Immunol 82:801–811. https://doi.org/10.1016/J.HUMIMM.2021.02.012
Jindal A, Sharma M, Karena ZV, Chaudhary C (2022) Amniocentesis. In: Obstetric imaging: fetal diagnosis and care, 2nd edn, pp 473–475. https://doi.org/10.1016/B978-0-323-44548-1.00111-X
Kaye DK (2023) Addressing ethical issues related to prenatal diagnostic procedures. Maternal Health Neonatol Perinatol 9:1. https://doi.org/10.1186/S40748-023-00146-4
Kihlbom U (2016) Ethical issues in preconception genetic carrier screening. Ups J Med Sci 121:295–298. https://doi.org/10.1080/03009734.2016.1189470
Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G et al (2022) A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases. Am J Hum Genet 109:1605–1619. https://doi.org/10.1016/J.AJHG.2022.08.003
Lamb B, Johnson E, Francis L, Fagan M, Riches N, Canada I, Wilson A, Mathiesen A, Sabatello M, Gurtcheff S et al (2018) Pre-implantation genetic testing: decisional factors to accept or decline among in vitro fertilization patients. J Assist Reprod Genet 35:1605–1612. https://doi.org/10.1007/s10815-018-1278-2
Levy B, Wapner R (2018) Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril 109:201–212. https://doi.org/10.1016/J.FERTNSTERT.2018.01.005
Liu Z, Zhu L, Roberts R, Tong W (2019) Toward clinical implementation of next-generation sequencing-based genetic testing in rare diseases: where are we? Trends Genet 35:852–867. https://doi.org/10.1016/J.TIG.2019.08.006
Moelans CB, Atanesyan L, Savola SP, van Diest PJ (2018) Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). Methods Mol Biol 1708:537–549. https://doi.org/10.1007/978-1-4939-7481-8_27/COVER
Procter M, Chou LS, Tang W, Jama M, Mao R (2006) Molecular diagnosis of Prader–Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. Clin Chem 52:1276–1283. https://doi.org/10.1373/CLINCHEM.2006.067603
Pulst SM (1999) Genetic linkage analysis. Arch Neurol 56:667–672. https://doi.org/10.1001/ARCHNEUR.56.6.667
Rao A, Sairam S, Shehata H (2004) Obstetric complications of twin pregnancies. Best Pract Res Clin Obstet Gynaecol 18:557–576. https://doi.org/10.1016/J.BPOBGYN.2004.04.007
Ren M, Shireman H, VanGompel EW, Bello JK, Carlock F, McHugh A, Stulberg D (2023) Preconception, interconception, and reproductive health screening tools: a systematic review. Health Serv Res 58:458–488. https://doi.org/10.1111/1475-6773.14123
Richardson E, McEwen A, Newton-John T, Crook A, Jacobs C (2022) Systematic review of outcomes in studies of reproductive genetic carrier screening: towards development of a core outcome set. Genet Med 24:1–14. https://doi.org/10.1016/j.gim.2021.08.005
Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci 74:5463–5467. https://doi.org/10.1073/PNAS.74.12.5463
Schmidtke J, Krawczak M (2022) Correspondence on “Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)” by Gregg et al. Genet Med 24:1156–1157. https://doi.org/10.1016/j.gim.2022.01.003
Schuurmans J, Birnie E, van den Heuvel LM, Plantinga M, Lucassen A, van der Kolk DM, Abbott KM, Ranchor AV, Diemers AD, van Langen IM (2019) Feasibility of couple-based expanded carrier screening offered by general practitioners. Eur J Hum Genet 27:691–700. https://doi.org/10.1038/s41431-019-0351-3
Simpson JL, Rechitsky S (2019) Prenatal genetic testing and treatment for congenital adrenal hyperplasia. Fertil Steril 111:21–23. https://doi.org/10.1016/J.FERTNSTERT.2018.11.041
Smith L, Malinowski J, Ceulemans S, Peck K, Walton N, Sheidley BR, Lippa N (2023) Genetic testing and counseling for the unexplained epilepsies: an evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns 32(2):266–280. https://doi.org/10.1002/JGC4.1646
Sullivan-Pyke C, Dokras A (2018) Preimplantation genetic screening and preimplantation genetic diagnosis. Obstet Gynecol Clin N Am 45:113–125. https://doi.org/10.1016/j.ogc.2017.10.009
Temel S, Van Voorst SF, Jack BW, Denktaş S, Steegers EAP (2014) Evidence-based preconceptional lifestyle interventions. Epidemiol Rev 36:19–30. https://doi.org/10.1093/EPIREV/MXT003
van den Heuvel LM, van den Berg N, Janssens ACJW, Birnie E, Henneman L, Dondorp WJ, Plantinga M, van Langen IM (2022) Societal implications of expanded universal carrier screening: a scoping review. Eur J Hum Genet 31(1):55–72. https://doi.org/10.1038/s41431-022-01178-8
Van den Veyver IB (2016) Recent advances in prenatal genetic screening and testing. F1000Res 5:2591. https://doi.org/10.12688/F1000RESEARCH.9215.1
Vaz-Drago R, Custódio N, Carmo-Fonseca M (2017) Deep intronic mutations and human disease. Hum Genet 136:1093–1111. https://doi.org/10.1007/S00439-017-1809-4
Vink J, Quinn M (2021) Chorionic villus sampling. In: Obstetric imaging: fetal diagnosis and care, 2nd edn, pp 479–481. https://doi.org/10.1016/B978-0-323-44548-1.00113-3
Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA et al (2012) Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 367:2175–2184. https://doi.org/10.1056/NEJMOA1203382
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2024 The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd.
About this chapter
Cite this chapter
Kumaran, K. et al. (2024). Prenatal Screening and Counseling for Rare Genetic Disorders. In: Umair, M., Rafeeq, M., Alam, Q. (eds) Rare Genetic Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-99-9323-9_3
Download citation
DOI: https://doi.org/10.1007/978-981-99-9323-9_3
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-99-9322-2
Online ISBN: 978-981-99-9323-9
eBook Packages: MedicineMedicine (R0)