Prospects of screening for carriers of hereditary diseases in pre-conception preparation programs

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Screening for carriage of hereditary diseases in most cases is the only way to establish the degree of risk of genetic pathology. Currently, neither in Russia nor in any other country in the world there is a definite list of genes and diseases associated with them, for which carriers should be tested, as well as normative documents for its implementation. The purpose of this literature review was to identify the factors influencing the attitude of both representatives of the medical community and the general population to the idea of mass introduction of genetic testing for carriage of hereditary diseases in persons of active reproductive age. Mainly publications for the last decade are analyzed, as well as international testing and tactics in detecting carriage of hereditary disease. Ethical and legal aspects of obtaining and using genetic information are highlighted. Further study and improvement of the regulatory and legal framework of genetic testing, taking into account the achievements of modern genetics, the emergence of new diagnostic technologies, moral, ethical and religious aspects of this problem are required.

Keywords:

carriage of hereditary diseases

genetic screening

creation of a regulatory framework governing genetic screening

pre-conception counselling

pre-conception testing

tactics in the detection of mutation carriage in genes

mass introduction of genetic testing

Authors:

Kudryavtseva E.V.

Ural State Medical University;
Institute of Medical Cellular Technologies;
Maternal and Child Health Protection

ORCID: 0000-0003-2797-1926

Deryabina S.S.

Ural State Medical University;
Institute of Medical Cellular Technologies;
Maternal and Child Health Protection

ORCID: 0000-0001-5614-5944

Kovalev V.V.

Ural State Medical University

ORCID: 0000-0001-8640-8418

Nikolaeva E.B.

Maternal and Child Health Protection

ORCID: 0000-0001-7535-2797

Vagushchenko U.A.

Ural State Medical University;
Ekaterinburg Clinical Perinatal Centre

ORCID: 0000-0002-0428-6187

Received:

24.01.2023

Accepted:

22.02.2023

List of references:

Baranov VS. The evolution of predictive medicine. Old ideas, new concepts. Meditsinskaya Genetika. 2017;16:4-9. (In Russ.).
Kudryavtseva EV. Philosophical, medical and legal aspects of reproductive genetics. Ural’skii meditsinskii zhurnal. 2018;13:168:54-57. (In Russ.). https://doi.org/10.25694/URMJ.2018.13.46
Dungan J. Expanded carrier screening: what the reproductive endocrinologist needs to know. Fertil Steril. 2018;109:183-189. https://doi.org/10.1016/j.fertnstert.2017.11.030
Leonard S.J. Reproductive genetic screening for information: Evolving paradigms? J Perina Med. 2021;49:998-1002. https://doi.org/10.1515/jpm-2021-0353
Gates A, Terry SF, Bonhomme N. Expanded carrier screening and its implications on genetic testing protocols. Genet Test Mol Biomarkers. 2016;20:643-644. https://doi.org/10.1089/gtmb.2016.29023.sjt
Dive L, Newson AJ. Ethical issues in reproductive genetic carrier screening. Med J Aust. 2021;214:165-167.e1. https://doi.org/10.5694/mja2.50789
Sparks TN. Expanded carrier screening: counseling and considerations. Hum Genet. 2020;139:1131-1139. https://doi.org/10.1007/s00439-019-02080-y
Zeevi DA, Chung WK, Levi C, Scher SY, Bringer R, Kahan Y, Muallem H, Benel R, Hirsch Y, Weiden T, Ekstein A, Ekstein J. Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts. Mol Genet Genomic Med. 2021;9:e1756. https://doi.org/10.1002/mgg3.1756
King JR, Klugman S. Ethnicity-based carrier screening. Obstet Gynecol Clin North Am. 2018;45:83-101. https://doi.org/10.1016/j.ogc.2017.10.010
Zhao S, Xiang J, Fan C, Asan, Shang X., Zhang X, Chen Y., Zhu B, Cai W, Chen S, Cai R, Guo X, Zhang C, Zhou Y, Huang S, Liu Y, Chen B., Yan S Chen Y, Ding H, Guo F, Wang Y, Zhong W, Zhu Y, Wang Y, Chen C, Li Y, Huang H, Mao M, Yin Y, Wang J, Yang H, Xu X, Sun J, Peng Z. Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples. Eur J Hum Genet: EJHG. 2019;27:254-262. https://doi.org/10.1038/s41431-018-0253-9
Garayeva SZ. The influence of inbred marriages on the incidence of children. Meditsinskaya genetika. 2020;19:23-24. (In Russ.). https://doi.org/10.25557/2073-7998.2020.07.23-24
Komarov IA, Krasil’nikova EYu, Alexandrova OYu, Zinchenko RA, Kutsev SI. Analysis of the prevalence of rare (orphan) diseases («List 24») and the dynamics of detection of pediatric patients in the subjects of the Russian Federation. Meditsinskaya genetika. 2020;19:25-26. (In Russ.). https://doi.org/10.25557/2073-7998.2020.07.25-26
Zinchenko RA, Vasil’eva TP, Konovalov OE, Komarov IA, Krasil’nikova EYu, Alexandrova OYu, Kutsev SI. Disability and mortality due to rare (orphan) diseases among the child population of the Russian Federation. Pediatriya. Zuurnal im. G.N. Speranskogo. (In Russ.).
Azimi M, Schmaus K, Greger V, Neitzel D, Rochelle R, Dinh T. Carrier screening by next-generation sequencing: health benefits and cost effectiveness. Mol Genet Genomic Med. 2016;4:292-302. https://doi.org/10.1002/mgg3.204
Revazyan KZ, Meshkov AN, Ershova AI, Sivakova OV, Drapkina OM. Psychosocial, ethical, legal and economic aspects of genetic screening for the carriage of variants that cause the development of monogenic recessive diseases. Profilakticheskaya meditsina. 2021;24:102-108. (In Russ.). https://doi.org/10.17116/profmed202124021102
Revazyan KZ, Meshkov AN, Ershova AI, Sivakova OV, Glechan AM, Drapkina OM. Genetic screening for heterozygous carriage of mutations causing the development of monogenic recessive diseases. Profilakticheskaya meditsina. 2020;23:111-117. (In Russ.). https://doi.org/10.17116/profmed202023062111
van Steijvoort E, Chokoshvili DW, Cannon J, Peeters H, Peeraer K, Matthijs G, Borry P. Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature. Hum Reprod Update. 2020;26:335-355. https://doi.org/10.1093/humupd/dmaa001
Rabkina L, Swanson A, Aufox S, Propst L, Fiddler M, Wagner A, Arjunan A. What women want: General population perspectives and access to preconception expanded carrier screening. Prenat Diagn. 2021;41:1057-1065. https://doi.org/10.1002/pd.5995
McQueen DB, Warren CM, Xiao AH, Shulman LP, Jain T. Disparities among infertility patients regarding genetic carrier screening, sex selection, and gene editing. J Assist Reprod Genet. 2021;38:2319-2325. https://doi.org/10.1007/s10815-021-02261-7
Delatycki MB, Laing NG, Moore SJ, Emery J, Archibald AD, Massie J, Kirk E. Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners. Aust J Gen Pract. 2019;48:106-110. https://doi.org/10.31128/AJGP-10-18-4725
Passarg E. Visual genetics; trans. from English. Ed. by Doctor of Biology Sciences Rebrikov D.V. 2nd ed. M.: Knowledge Laboratory publ; 2021;507. (In Russ.).
Romero S, Jr JRB, Jr DNS, Giardine R. Committee Opinion No. 691 Summary: Carrier Screening for Genetic Conditions. Obstet Gynecol. 2017;129:3:597-599. https://doi.org/10.1097/AOG.0000000000001948
Zhang J, Wang Y, Ma D, Sun Y, Li Y, Yang P, Luo C, Jiang T, Hu P, Xu Z. Carrier screening and prenatal diagnosis for spinal muscular atrophy in 13,069 chinese pregnant women. J Mol Diagn: JMD. 2020;22:817-822. https://doi.org/10.1016/j.jmol.2020.03.001
Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, Flynn K, Hendrickson BC, Scholl T, Sirko-Osadsa DA, Allitto BA. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet: EJHG. 2012;20:27-32. https://doi.org/10.1038/ejhg.2011.134
Maretina MA, Kiselev AV, Il’ina AV, Egorova AA, Glotov AS, Bespalova ON, Baranov VS, Kogan IYu. Current trends in the diagnosis, screening and treatment of spinal muscular atrophy. Vestnik Rossiiskoi ackademii meditsinskikh nauk. 2022;77:87-96. (In Russ.). https://doi.org/10.15690/vramn1768
Grody WW, Thompson BH, Gregg AR, Bean LH, Monaghan KG, Schneider A, Lebo RV. ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med. 2013;15:482-483. https://doi.org/10.1038/gim.2013.47
Gregg AR, Edwards JG. Prenatal genetic carrier screening in the genomic age. Semin Perinatol. 2018;42:303-306. https://doi.org/10.1053/j.semperi.2018.07.019
Baranova EE, Fedulova AS, Glotov AS, Izhevskaya VL. Recommendations for genetic testing of healthy adults who deposit their samples and information in bioresource collections and biobanks. Kardiovaskulyarnaya therapiya i profilaktika. 2021;20:135-148. (In Russ.). https://doi.org/10.15829/1728-8800-2021-3120
Committee Opinion No. 690: Carrier screening in the age of genomic medicine. Obstet Gynecol. 2017;129:e35-40. https://doi.org/10.1097/AOG.0000000000001951
Grody WW. Where to draw the boundaries for prenatal carrier screening. JAMA. 2016;316:717-719. https://doi.org/10.1001/jama.2016.10888
Kirk EP, Ong R, Boggs K, Hardy T, Righetti S, Kamien B, Roscioli T, Amor DJ, Bakshi M, Chung CWT, Colley A, Jamieson RV, Liebelt J, Ma A, Pachter N, Rajagopalan S, Ravine A, Wilson M, Caruana J, Casella R, Davis M, Edwards S, Archibald A, McGaughran J, Newson AJ, Laing NG, Delatycki MB. Gene selection for the Australian Reproductive Genetic Carrier Screening Project («Mackenzie’s Mission»). Eur J Hum Genet: EJHG. 2021;29:79-87. https://doi.org/10.1038/s41431-020-0685-x
Capalbo A, Fabiani M, Caroselli S, Poli M, Girardi L, Patassini C, Favero F, Cimadomo D, Vaiarelli A, Simon C, Rienzi LF, Ubaldi FM. Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population. Hum Reprod. 2021;36:2050-2061. https://doi.org/10.1093/humrep/deab087
Thomas LA, Lewis S, Massie J, Kirk EP, Archibald AD, Barlow-Stewart K, Boardman FK, Halliday J, McClaren B, Delatycki MB. Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition. Eur J Med Genet. 2020;63:104075. https://doi.org/10.1016/j.ejmg.2020.104075
Zinchenko RA, Ginter EK, Kutsev SI. Features of the diversity of hereditary diseases in different regions and multiethnic populations of the Russian Federation. Meditsinskaya genetika. 2020;19:13-14. (In Russ.). https://doi.org/10.25557/2073-7998.2020.07.13-14
Nazareth SB, Lazarin GA, Goldberg JD. Changing trends in carrier screening for genetic disease in the United States. Prenat Diagn. 2015;35:931-935. https://doi.org/10.1002/pd.4647
Rose NC, Wick M. Carrier screening for single gene disorders. Semi Fetal Neonatal Med. 2018;23:78-84. https://doi.org/10.1016/j.siny.2017.06.001
Gregg AR. Expanded carrier screening. Obstet Gynecol Clin North Am. 2018;45:103-112. https://doi.org/10.1016/j.ogc.2017.10.005
Mastantuoni E, Saccone G, Al-Kouatly HB, Paternoster M, D’Alessandro P, Arduino B, Carbone L, Esposito G, Raffone A, De Vivo V, Maruotti GM, Berghella V, Zullo F. Expanded carrier screening: A current perspective. Eur J Obstet Gynecol Reprod Biol. 2018;230:41-54. https://doi.org/10.1016/j.ejogrb.2018.09.014
Best S, Long J, Theodorou T, Hatem S, Lake R, Archibald A, Freeman L, Braithwaite J. Health practitioners’ perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review. Prenat Diagn. 2021;41:708-719. https://doi.org/10.1002/pd.5914
Nazarenko LP, Nazarenko MS. Epidemiology of hereditary diseases in healthcare practice: evolution from theory to technology and vice versa. Meditsinskaya genetika. 2020;19:15-16. (In Russ.). https://doi.org/10.25557/2073-7998.2020.07.15-16
Kutsev SI, Moiseev SV. Family genetic screening for rare hereditary diseases (using the example of Fabry disease). Klinicheskaya farmakologyiya i therapiya 2021;30:6-12. (In Russ.). https://doi.org/10.32756/0869-5490-2021-4-6-12
Ioannou L, Delatycki MB, Massie J, Hodgson J, Lewis S. «Suddenly having two positive people who are carriers is a whole new thing» — Experiences of couples both identified as carriers of cystic fibrosis through a population-based carrier screening program in Australia. J Genet Couns. 2015;24:987-1000. https://doi.org/10.1007/s10897-015-9833-9
Order of the Ministry of Health and Social Development of the Russian Federation of December 3, 2007 N 736 «On approval of the list of medical indications for artificial termination of pregnancy» (with amendments and additions). (In Russ.). https://pravo.gov.ru/proxy/ips/?docbody=&link_id=15&nd=102120553
Vaz-de-Macedo C, Harper J. A closer look at expanded carrier screening from a PGD perspective. Hum Reprod. 2017;32:1951-1956. https://doi.org/10.1093/humrep/dex272
Gee M, Piercy H, Machaczek K. Family planning decisions for parents of children with a rare genetic condition: A scoping review. Sex Reprod Health. 2017;14:1-6. https://doi.org/10.1016/j.srhc.2017.08.001
Rebrikov DV. Editing the human genome. Vestnik Rossiiskogo gosudarstvennogo meditsinskogo universiteta. 2016;3:4-15. (In Russ.).
Tuzankina IA, Voronina LI, Nechkin AV. Constitutional and legal aspects of screening for hereditary diseases in the Russian Federation. Sovremennoe pravo. 2019;31-37. (In Russ.). https://doi.org/10.25799/NI.2019.59.64.018
Medvedev MV, Suvorov GN, Osavelyuk AM, Zenin SS. Legal restrictions when conducting prenatal genetic screening procedures in Russia and foreign countries. Zdravookhranenie Rossiiskoi Federatsii. 2019;63:264-270. (In Russ.).
Kraft SA, Duenas D, Wilfond BS, Goddard KAB. The evolving landscape of expanded carrier screening: challenges and opportunities. Genet Med. 2019;21:790-797. https://doi.org/10.1038/s41436-018-0273-4
Belushkina NN, Pal’tsev MA. Principles of predictive genetic testing and screening in the concept of personalized medicine. Molekulyarnaya meditsina. 2020;18:3-10. (In Russ.). https://doi.org/10.29296/24999490-2020-06-01
Izhevskaya VL, Baranova EE. Informed consent for genetic testing and screening. Meditsinskaya genetika. 2022;21:16-24. (In Russ.). https://doi.org/10.25557/2073-7998.2022.04.16-24
Little SE, Janakiraman V, Kaimal A, Musci T, Ecker J, Caughey AB. The cost-effectiveness of prenatal screening for spinal muscular atrophy. Am J Obstet Gynecol. 2010;202:253.e1-7. https://doi.org/10.1016/j.ajog.2010.01.032
Gbur S, Mauney L, Gray KJ, Wilkins-Haug L, Guseh S. Counseling for personal health implications identified during reproductive genetic carrier screening. Prenat Diagn. 2021;41:1460-1466. https://doi.org/10.1002/pd.6033
Stevens B, Krstic N, Jones M, Murphy L, Hoskovec J. Finding middle ground in constructing a clinically useful expanded carrier screening panel. Obstet Gynecol. 2017;130:279-284. https://doi.org/10.1097/AOG.0000000000002139

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