Recent developments in genetics and medically assisted reproduction: from research to clinical applications

J. C. Harper; K. Aittomaki; P. Borry; M. C. Cornel; G. de Wert; W. Dondorp; J. Geraedts; L. Gianaroli; K. Ketterson; I. Liebaers; K. Lundin; H. Mertes; M. Morris; G. Pennings; K. Sermon; C. Spits; S. Soini; A. P. A. van Montfoort; A. Veiga; J. R. Vermeesch; S. Viville; M. Macek; European Soc Human Reprod; European Soc Human Genetics

doi:10.1038/s41431-017-0016-z

Recent developments in genetics and medically assisted reproduction: from research to clinical applications

J. C. Harper
, K. Aittomaki
, P. Borry
, M. C. Cornel
, G. de Wert
, W. Dondorp
, J. Geraedts
, L. Gianaroli
, K. Ketterson
, I. Liebaers
, K. Lundin
, H. Mertes
, M. Morris
, G. Pennings
, K. Sermon
, C. Spits
, S. Soini
, A. P. A. van Montfoort
, A. Veiga
, J. R. Vermeesch

S. Viville, M. Macek^*, European Soc Human Reprod; European Soc Human Genetics

^*Corresponding author for this work

Research output: Contribution to journal › (Systematic) Review article › peer-review

Abstract

Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.

Original language	English
Pages (from-to)	12-33
Number of pages	22
Journal	European Journal of Human Genetics
Volume	26
Issue number	1
DOIs	https://doi.org/10.1038/s41431-017-0016-z
Publication status	Published - 1 Jan 2018

Keywords

Assisted reproductive technology
Epigenetics
Expanded carrier screening
Gamete donor anonymity
Germline genome editing
Female infertility
Male infertility
Mitochondrial replacement therapy
Non-invasive prenatal testing
Preimplantation genetic testing
PRIMARY OVARIAN INSUFFICIENCY
CONGENITAL ADRENAL-HYPERPLASIA
HUMAN PREIMPLANTATION EMBRYOS
MITOCHONDRIAL-DNA DISEASE
EXOME SEQUENCING REVEALS
FETAL SEX DETERMINATION
SCREENING PGS STILL
OOGONIAL STEM-CELLS
NEXT-GENERATION
MALE-INFERTILITY

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Harper, J. C., Aittomaki, K., Borry, P., Cornel, M. C., de Wert, G., Dondorp, W., Geraedts, J., Gianaroli, L., Ketterson, K., Liebaers, I., Lundin, K., Mertes, H., Morris, M., Pennings, G., Sermon, K., Spits, C., Soini, S., van Montfoort, A. P. A., Veiga, A., ... European Soc Human Reprod; European Soc Human Genetics (2018). Recent developments in genetics and medically assisted reproduction: from research to clinical applications. European Journal of Human Genetics, 26(1), 12-33. https://doi.org/10.1038/s41431-017-0016-z

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title = "Recent developments in genetics and medically assisted reproduction: from research to clinical applications",

abstract = "Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.",

keywords = "Assisted reproductive technology, Epigenetics, Expanded carrier screening, Gamete donor anonymity, Germline genome editing, Female infertility, Male infertility, Mitochondrial replacement therapy, Non-invasive prenatal testing, Preimplantation genetic testing, PRIMARY OVARIAN INSUFFICIENCY, CONGENITAL ADRENAL-HYPERPLASIA, HUMAN PREIMPLANTATION EMBRYOS, MITOCHONDRIAL-DNA DISEASE, EXOME SEQUENCING REVEALS, FETAL SEX DETERMINATION, SCREENING PGS STILL, OOGONIAL STEM-CELLS, NEXT-GENERATION, MALE-INFERTILITY",

author = "Harper, \{J. C.\} and K. Aittomaki and P. Borry and Cornel, \{M. C.\} and \{de Wert\}, G. and W. Dondorp and J. Geraedts and L. Gianaroli and K. Ketterson and I. Liebaers and K. Lundin and H. Mertes and M. Morris and G. Pennings and K. Sermon and C. Spits and S. Soini and \{van Montfoort\}, \{A. P. A.\} and A. Veiga and Vermeesch, \{J. R.\} and S. Viville and M. Macek and \{European Soc Human Reprod; European Soc Human Genetics\}",

year = "2018",

month = jan,

day = "1",

doi = "10.1038/s41431-017-0016-z",

language = "English",

volume = "26",

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journal = "European Journal of Human Genetics",

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Harper, JC, Aittomaki, K, Borry, P, Cornel, MC, de Wert, G , Dondorp, W, Geraedts, J, Gianaroli, L, Ketterson, K, Liebaers, I, Lundin, K, Mertes, H, Morris, M, Pennings, G, Sermon, K, Spits, C, Soini, S, van Montfoort, APA, Veiga, A, Vermeesch, JR, Viville, S, Macek, M & European Soc Human Reprod; European Soc Human Genetics 2018, 'Recent developments in genetics and medically assisted reproduction: from research to clinical applications', European Journal of Human Genetics, vol. 26, no. 1, pp. 12-33. https://doi.org/10.1038/s41431-017-0016-z

TY - JOUR

T1 - Recent developments in genetics and medically assisted reproduction

T2 - from research to clinical applications

AU - Harper, J. C.

AU - Aittomaki, K.

AU - Borry, P.

AU - Cornel, M. C.

AU - de Wert, G.

AU - Dondorp, W.

AU - Geraedts, J.

AU - Gianaroli, L.

AU - Ketterson, K.

AU - Liebaers, I.

AU - Lundin, K.

AU - Mertes, H.

AU - Morris, M.

AU - Pennings, G.

AU - Sermon, K.

AU - Spits, C.

AU - Soini, S.

AU - van Montfoort, A. P. A.

AU - Veiga, A.

AU - Vermeesch, J. R.

AU - Viville, S.

AU - Macek, M.

AU - European Soc Human Reprod; European Soc Human Genetics

PY - 2018/1/1

Y1 - 2018/1/1

N2 - Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.

AB - Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.

KW - Assisted reproductive technology

KW - Epigenetics

KW - Expanded carrier screening

KW - Gamete donor anonymity

KW - Germline genome editing

KW - Female infertility

KW - Male infertility

KW - Mitochondrial replacement therapy

KW - Non-invasive prenatal testing

KW - Preimplantation genetic testing

KW - PRIMARY OVARIAN INSUFFICIENCY

KW - CONGENITAL ADRENAL-HYPERPLASIA

KW - HUMAN PREIMPLANTATION EMBRYOS

KW - MITOCHONDRIAL-DNA DISEASE

KW - EXOME SEQUENCING REVEALS

KW - FETAL SEX DETERMINATION

KW - SCREENING PGS STILL

KW - OOGONIAL STEM-CELLS

KW - NEXT-GENERATION

KW - MALE-INFERTILITY

U2 - 10.1038/s41431-017-0016-z

DO - 10.1038/s41431-017-0016-z

M3 - (Systematic) Review article

C2 - 29199274

SN - 1018-4813

VL - 26

SP - 12

EP - 33

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 1

ER -

Recent developments in genetics and medically assisted reproduction: from research to clinical applications

Abstract

Keywords

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