Key Words
On February 3, 2015, the Parliament of the United Kingdom approved the use of “mitochondrial replacement” for women wishing to have a genetically related child who might then be at risk for a mitochondrial disorder.
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The United States Food and Drug Administration’s Cellular, Tissue, and Gene Therapies Advisory Committee is considering a proposal to allow “mitochondrial replacement” in 2015.2.
What is actually happening in “mitochondrial replacement” is not mitochondrial replacement; instead, it is the transfer of the nucleus from the oocyte of an IVF patient seeking to be a genetic parent to the enucleated oocyte of a woman who is being paid to undergo IVF to provide an ooplasmic vessel containing supposedly healthy mitochondria. The new reproductive genetics term “mitochondrial replacement” being substituted for germ-line nuclear transfer is reminiscent of other euphemisms used in reproductive genetics to open prickly barn doors to human research, as well as to gain clinical and public acceptance.The reasons that “mitochondrial replacement” is being used in place of “nuclear transfer” include the fact that nuclear transfer resulting in an embryo that can develop into a child is germ-line nuclear transfer. This is clearly prohibited (with criminal sanction) under the legislative section on reproductive cloning in both the United Kingdom and the United States,
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as well as in Canada,5.
Australia, and most other countries in which substantive legislation exists governing assisted reproduction and embryo research. The fact that germ-line nuclear transfer is prohibited in the United States is of particular interest, as little legislation or other forms of regulation regarding assisted reproduction exist in that country. A further reason for using the euphemism “mitochondrial replacement” is to garner public support for this particular form of germ- line nuclear transfer, which is fraught with ethical and social issues7.
for the few citizens involved and the children created. Having public support is particularly important for many of those promoting this enterprise because it will open the door to a wide variety of research endeavours.7.
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The legislation passed in the United Kingdom was based on the report of a Human Fertilisation and Embryology Authority (HFEA) panel that included consultation with members of the public as well as scientists and other “experts.”
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The panel concluded that current evidence “does not suggest that these techniques are unsafe,”9.
but did not seem to worry about the potential physical and psychological harms to the woman who would be paid to undergo IVF to provide oocytes for the purchasing woman.7.
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It is also disturbing that in the HFEA panel report the term “therapy” is used to describe the proposed “mitochondrial replacement,” when no actual therapy (as clinicians understand the term) for a child, adult, or even an embryo takes place. For example, the report includes the phrase “Although the intention of such therapy is to select embryos for transfer with as low a level of mutant mtDNA as possible…”9.
, p. 27 The use of the term “therapy” in association with “to select embryos” blurs the differentiation between therapeutic initiatives and selection strategies.15.
The misnomer “therapy” assures the public of a good that is not present when the more appropriate word “technology” is used.Similar to the goal of using the camouflage term “mitochondrial replacement” to garner support for germ- line nuclear transfer and related research, other replacement terms have been used in reproductive genetics to promote acceptance by research ethics boards and support from the public and clinical regulators for prickly practices laden with ethical and social issues. For example, the term “preembryo” was created in the late 1980s to describe human embryos less than 14 days post-fertilization in order to promote the use of human embryos from IVF for research purposes in general,
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and for preimplantation genetic diagnosis (PGD) in particular, even though the term had never been used in human or animal embryology or cell biology.16.
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I am guilty of using the term pre-embryo in my research ethics board submissions for our animal and human research on PGD in the late 1980s,18.
and did not stop using this term until I began worrying about the ethical and social issues regarding PGD in 1993.19.
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Even the expression “PGD” is a misnomer, as it is generally used for embryo screening and sometimes testing, but the word “diagnosis” adds a more socially acceptable element to the expression.Although the analogy is not as specific as for PGD, another new reproductive genetics misnomer is non-invasive prenatal testing (NIPT), unless it is used in the context of the 2013 Committee Opinion on the subject from the Society of Obstetricians and Gynaecologists of Canada.
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The recommendations in this Committee Opinion indicate that NIPT should be used as a step before amniocentesis in pregnancies at high risk of particular genetic conditions due to non-reassuring integrated pregnancy screening or other high risk factors, and should be accompanied by genetic counselling. It is highly likely that the biotechnology companies that developed NIPT envisaged a much larger market for their testing than the women for whom the SOGC recommended its use. The developers are probably correct in their vision, in that it is likely that NIPT will be used mostly for related non-medical indications such as sex selection and other “designer baby” promotions. For these indications, NIPT is a misnomer for privately funded screening, as the great majority of women responding to advertisements for NIPT have no reason to suspect a genetic anomaly. Indeed, these women generally have not completed IPS when they send off their blood for NIPT, and they generally have no age-related risk. In addition, NIPT can be quite damaging for the many women who receive anxiety-provoking genetic information without previous genetic counselling and with no rapid access to genetic counselling.22.
In 1988, Canadian geneticist Abby Lippman began expressing concern that reproductive genetics technologies would “geneticize” our concepts of health, medicine, and society.
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More than 25 years later, although the terms “pre-embryo” and “unsuitable” embryo are no longer in use, and the term “non-invasive prenatal testing” is being scrutinized in Canada,21.
“mitochondrial replacement” has just begun to infiltrate medical parlance to camouflage the opening of the prickly door to human germ-line nuclear transfer. Clinicians, researchers, policy makers, professional organizations such as the SOGC, and the general public must be engaged in considering the true meaning of “mitochondrial replacement” and future new terms in reproductive genetics, as well as the motivations of those who promote soothing names for prickly enterprises.ACKNOWLEDGEMENT
Transparency declaration: The author was Co-chair of Health Canada’s Advisory Committee on Reproductive and Genetic Technology (1997—2004) that advised on the legislation placing criminal sanctions on human germ-line nuclear transfer.
REFERENCES
- Commons debate statutory instrument on mitochondrial donation. UK Parliament, London (GB)2015 ([cited 2015 Feb 3]. Available at: Accessed June 25, 2015)
- Cellular, Tissue, and Gene Therapies Advisory Committee Meeting: announcement. U.S. Department of Health and Human Services, Silver Spring (MD)February 25—26, 2014 (2014. Available at Accessed June 25, 2015)
- Amendments of the HFEA. 1990 (updated 2008), United Kingdom, (1990)
- Human Cloning Prohibition Act of 2003, United States.2003
- Assisted Human Reproduction Act (section 5.1.c & 5.1.f), Department of Justice Canada.2004
- Prohibition of Human Cloning Act.2002 (Act No. 144 of 2002 as amended, taking into account amendments up to Act No. 144 of 2008. Section 15. 2002 Dec)
- The ethics of creating children with three genetic parents.Reprod Biomed Online. 2013; 26: 531-534
- Crossing the germ line—facing genetics’ great taboo.NewScientist Opinion, London (GB)2015 ([cited 20150 Mar 4]. Accessed June 25, 2015)
- Third scientific review of the safety and efficacy of methods to avoid mitochondrial disease through assisted conception.2014 (2014 update. London (GB):)
- Looking back: egg donors’ retrospective evaluations of their motivations, expectations, and experiences during their first donation cycle.Fertil Steril. 2010; 93: 455-466
- Ovarian hyperstimulation syndrome.Fertil Steril. 2003; 80: 1309-1314
- Severe OHSS: an ‘epidemic’ of severe OHSS: a price we have to pay?.Hum Reprod. 1999; 14: 2181-2183
- Health equity and access to oocyte “donation.”.in: Sauer M.V. Principles of Oocyte and embryo donation. 2nd ed. Springer-Verlag, London (GB)2013: 371-382
- Physician obligation in oocyte procurement.Am J Bioeth. 2001; 1: 22-23
- Social determinants of “health” of embryos.in: Nisker J. Baylis F. Karpin I. McLeod C. Mykitiuk R. The “healthy” embryo: Social, biomedical, legal and philosophical perspectives. Cambridge University Press, New York (NY)2010: 116-135
- The preembryo’s short lifetime. The history of a word.Cuad Bioet. 2012; 23: 677-694
- Embryo research and public policy: a philosopher’s appraisal.J Med Philos. 1997; 22: 423-439
- The multipronucleate human pre-embryo: a new model for preimplantation biopsy (Abstract S40).Society for Gynecologic Investigation, 1993
- Pre-Implantation genetic diagnosis: a model of progress and concern.J Soc Obstet Gynaecol Can. 1995; 17: 247-262
- Orchids: not necessarily a gospel.in: Murray J. Mappa Mundi: mapping culture/mapping the world table of contents. University of Windsor Press, Windsor (ON)2001: 61-110
- Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma.J Obstet Gynaecol Can. 2013; 35: 177-181
- deVrijer B, Nisker J. Non-invasive prenatal testing: ethics and policy considerations.J Obstet Gynaecol Can. 2014; 36: 515-526
- Worrying—and worrying about—the geneticization of reproduction and health.in: Basen G. Eichler M. Lippman A. Misconceptions: the social construction of choice and the new reproductive and genetic technologies. 1st ed. Voyageur Publishing, Prescott (ON)1993
Article info
Publication history
Accepted:
March 16,
2015
Received:
February 10,
2015
Footnotes
Competing Interests: See Acknowledgements.
Identification
Copyright
© 2015 Society of Obstetricians and Gynaecologists of Canada. Published by Elsevier Inc. All rights reserved.
