Medical genetic disorders affect about one person in 25. Genetic engineering and DNA sequencing invented in the 1970s led to a revolution in genetics. Photograph: AP
The work on the repair of a gene in human eggs, reported in the journal Nature, is an important scientific achievement. It made use of Crispr (clustered regularly interspaced short palindromic repeats) technology to make a single specific change in the three billion units of the human genome. The work is indeed a stunning application of Crispr, with some elegant and surprising results and the publicity is good for my science but it is not likely to change the way reproductive medical genetics is practised and it raises no new ethical problems.
The claims made for the work, amplified by the media, will raise expectations in families carrying genes with severe medical effects and has already excited the critics who fear that geneticists are busy undermining our society. So let us first look at what has been achieved in the science, and then tease out some of the implications.
Medical genetic disorders cause a great deal of suffering and affect about one person in 25. Genetic engineering and DNA sequencing invented in the 1970s led to a revolution in genetics. Mutant genes causing many genetic disorders have been identified. Advances in human embryology led to in-vitro fertilisation (IVF) in 1978, leading to the birth of more than five million children and untold happiness in their families. The question arose whether IVF could be useful in dealing with medical genetic cases.
By the early 1990s geneticists could detect mutant genes in single cells taken from IVF embryos without harming the embryos. This led to the gradual introduction of preimplantation genetic diagnosis (PGD). Today parents who are concerned that they may conceive a child with a significant genetic disorder can produce embryos by IVF, these may be tested for the genetic defect and one or more unaffected embryos can then be implanted.
PGD requires a specific probe for each genetic mutation. Some mutations are common, such as F508 in cystic fibrosis, but for many families the mutations have to be analysed and specific probes prepared and tested. As many people know, IVF is itself complex PGD adds another level of complexity, meaning that the number of successful clinical cases dealt with worldwide to date is still only a few thousand. PGD is in its infancy.
So what will be the clinical impact of the new method on PGD? In their experiments, biologist Shoukhrat Mitalipov and his fellow researchers treated 58 embryos in which about 50 per cent carried the normal and half the mutant gene. After treatment they found that 42 (or 72 per cent) carried two normal genes. The mutant gene had been repaired in an estimated 13 out of 29 embryos. Crucially, not all embryos were repaired, nor was it possible to say that Crispr did not cause other unintended, off-target damage to other genes. The embryos were not implanted.
The authors suggest that repair by Crispr will increase the efficiency of PGD. In fact it will have almost no practical effect on PGD services, for two reasons. First, not all of the defective genes are repaired, so after Crispr the embryos still have to be screened by standard PGD to avoid implanting mutant genes. Second, repairing is much more complicated than the current method, which is already complicated. Two Swedish commentators who work in the field note dryly: Embryo genetic testing [PGD] during IVF remains the standard way to prevent the transmission of inherited diseases in human embryos.
In contrast to its use in reproductive medical genetics, use of Crispr in repairing genes in body tissues is a really promising approach to treating genetic disorders after birth, but that is another story.
What do we really need to do in developing PGD? The technical priority is to make IVF itself more efficient. Then we need to refine the current methods of PGD and apply them routinely to a much wider range of genetic mutations. The social priority is to provide PGD on national health services to all couples faced with a high chance of conceiving a child with a major genetic disorder.
Now what about the ethics? Since PGD, which is a medical procedure, is well accepted in international medicine there is nothing new on that front. If in the past, like the Catholic Church, you opposed IVF (and PGD), or the wishes of parents to avoid having children with genetic disorders, this work will not change opinions, and should not increase your concerns.
It is possible that the Crispr techniques of changing genes will be used for non-medical purposes in reproduction, for example to alter genetic qualities which have nothing to do with health. In the UK, such use is regulated by the Human Fertilisation and Embryology Authority, and might be made illegal (as for example is the non-medical use of PGD for sex selection). But it may be more difficult to make all applications illegal for example, parents might wish to have a child with blue instead of brown eyes, and if so is foolishness something we should make illegal?
One thing is clear. It is long past time that we put into effect the recommendations of the Irish Commission on Assisted Human Reproduction of 2005 dealing with these issues, which are not new, and are well known to the Government. IVF is not regulated in Ireland, nor is PGD, making it difficult for pioneers in the field such as Dr John Waterstone of Cork Fertility to provide a service that is badly needed in Ireland.
See the original post here:
Impact of gene editing breakthrough will be muted - Irish Times
- Copy number variation of the restorer Rf4 underlies human selection ... - Nature.com - November 15th, 2023 [November 15th, 2023]
- NYU Langone Health in the NewsThursday, November 9, 2023 - NYU Langone Health - November 15th, 2023 [November 15th, 2023]
- Eugenics: Plaguing scientific community with dark history | Opinion ... - The Arkansas Traveler - November 15th, 2023 [November 15th, 2023]
- Cranberries can bounce, float and pollinate themselves: The saucy ... - Japan Today - November 15th, 2023 [November 15th, 2023]
- Government Housing Assistance Linked to Increased Cancer ... - HealthDay - November 15th, 2023 [November 15th, 2023]
- Rate of New Lung Cancer Cases Has Decreased Over Last Five Years - HealthDay - November 15th, 2023 [November 15th, 2023]
- Clinically relevant antibiotic resistance genes are linked to a limited ... - Nature.com - November 15th, 2023 [November 15th, 2023]
- Disparities in Guideline-Concordant Care Found for Black CRC ... - HealthDay - November 15th, 2023 [November 15th, 2023]
- Mathematician Heather Harrington is new director at the Max Planck ... - EurekAlert - November 15th, 2023 [November 15th, 2023]
- New study finds genetic testing can effectively identify patients with ... - EurekAlert - November 15th, 2023 [November 15th, 2023]
- STK11 loss leads to YAP1-mediated transcriptional activation in ... - Nature.com - November 15th, 2023 [November 15th, 2023]
- CRISPR-broad: combined design of multi-targeting gRNAs and ... - Nature.com - November 15th, 2023 [November 15th, 2023]
- Master regulator of the dark genome greatly improves cancer T-cell ... - Science Daily - November 15th, 2023 [November 15th, 2023]
- Omega Therapeutics Showcases Bidirectional and Multiplexed ... - BioSpace - November 15th, 2023 [November 15th, 2023]
- Today is International 15q Day - ASBMB Today - November 15th, 2023 [November 15th, 2023]
- Evolution of taste: Sharks were already able to perceive bitter ... - EurekAlert - November 15th, 2023 [November 15th, 2023]
- Stanford Scientists Uncover New Indicators of Health, Disease, and ... - SciTechDaily - October 16th, 2023 [October 16th, 2023]
- NHGRI Director Eric Green elected to the National Academy of ... - National Human Genome Research Institute - October 16th, 2023 [October 16th, 2023]
- Monkey survives for two years after gene-edited pig-kidney transplant - Nature.com - October 16th, 2023 [October 16th, 2023]
- Opinion: Interest in RNA Editing Accelerates as Therapies Approach ... - BioSpace - October 16th, 2023 [October 16th, 2023]
- Regulation of dermal fibroblasts by human neutrophil peptides ... - Nature.com - October 16th, 2023 [October 16th, 2023]
- Consistent effects of the genetics of happiness across the lifespan ... - Nature.com - October 16th, 2023 [October 16th, 2023]
- Storytelling through the looking glass of genetics The Stute - The Stute - October 16th, 2023 [October 16th, 2023]
- Pet dogs shed light on human health, researchers say - UPI News - October 16th, 2023 [October 16th, 2023]
- Native microbiome dominates over host factors in shaping the ... - Nature.com - October 16th, 2023 [October 16th, 2023]
- Illinois-led project to sequence soybean genomes, improve future ... - Herald-Whig - October 16th, 2023 [October 16th, 2023]
- Unrealized targets in the discovery of antibiotics for Gram-negative ... - Nature.com - October 16th, 2023 [October 16th, 2023]
- How Biotech And AI Are Transforming The Human - Noema Magazine - October 16th, 2023 [October 16th, 2023]
- The Many Lives of Alexandria Forbes - BioSpace - October 16th, 2023 [October 16th, 2023]
- CEP20 promotes invasion and metastasis of non-small cell lung ... - Nature.com - October 16th, 2023 [October 16th, 2023]
- Genotyping, sequencing and analysis of 140,000 adults from Mexico ... - Nature.com - October 16th, 2023 [October 16th, 2023]
- The role and impact of alternative polyadenylation and miRNA ... - Nature.com - October 16th, 2023 [October 16th, 2023]
- Human - Simple English Wikipedia, the free encyclopedia - January 30th, 2023 [January 30th, 2023]
- Deep Dive Ties Together Dog Genetics, Brain Physiology and Behavior to Explain Why Collies Are Different from Terriers - Scientific American - December 12th, 2022 [December 12th, 2022]
- How oxytocin drives connections of newly integrated adult-born neurons: Research - Hindustan Times - December 12th, 2022 [December 12th, 2022]
- Alzheimer's Disease Genetics Fact Sheet - National Institute on Aging - December 2nd, 2022 [December 2nd, 2022]
- Human genetic clustering - Wikipedia - November 23rd, 2022 [November 23rd, 2022]
- Human Genome Project Fact Sheet - November 23rd, 2022 [November 23rd, 2022]
- Abstracts | International Congress of Human Genetics 2023 - November 23rd, 2022 [November 23rd, 2022]
- Ancient DNA and Neanderthals | The Smithsonian Institution's Human ... - November 16th, 2022 [November 16th, 2022]
- Biological Influences on Human Behavior: Genetics & Environment - November 16th, 2022 [November 16th, 2022]
- Fluent BioSciences showcasing breakthrough solutions to enable unprecedented scale, cost-efficiency and access for single-cell RNA sequencing at the... - October 28th, 2022 [October 28th, 2022]
- Human behaviour genetics - Wikipedia - October 23rd, 2022 [October 23rd, 2022]
- Nucleome Therapeutics raises oversubscribed 37.5 million Series A financing to decode the dark matter of the human genome and deliver first-in-class... - October 19th, 2022 [October 19th, 2022]
- Gladstone data scientist elected to the National Academy of Medicine - EurekAlert - October 19th, 2022 [October 19th, 2022]
- Ocugen to Host R&D Day in New York City on Tuesday, November 1, 2022 - Yahoo Finance - October 19th, 2022 [October 19th, 2022]
- Pharmacy researcher earns $2.3 million NIH award to study opioid addiction - EurekAlert - October 19th, 2022 [October 19th, 2022]
- Study shows age often plays a bigger role than genetics in gene expression and susceptibility to disease - Anti Aging News - October 19th, 2022 [October 19th, 2022]
- CSRWire - Direct Relief, Amgen and C/Can Team Up To Improve Access to Breast Cancer Diagnostics and Treatment in Paraguay - CSRwire.com - October 19th, 2022 [October 19th, 2022]
- Maze Therapeutics Appoints Harold Bernstein, M.D., Ph.D., as President, Research and Development and Chief Medical Officer - Business Wire - October 19th, 2022 [October 19th, 2022]
- New Rare Disease Therapy Effectively Lowers Plasma Phe in Patients with PKU - MD Magazine - October 19th, 2022 [October 19th, 2022]
- GSK : announces expanded collaboration with Tempus in precision medicine to accelerate R&D - Marketscreener.com - October 19th, 2022 [October 19th, 2022]
- Famous Scientific Discoveries That Changed the Course of History - 24/7 Wall St. - October 19th, 2022 [October 19th, 2022]
- Construction workers seek fulfilment of their demands - Star of Mysore - October 19th, 2022 [October 19th, 2022]
- Genetics | The Smithsonian Institution's Human Origins Program - October 13th, 2022 [October 13th, 2022]
- Genetics - Wikipedia - October 13th, 2022 [October 13th, 2022]
- Study looking at human genetics and Covid vaccine immune responses - Science Media Centre - October 13th, 2022 [October 13th, 2022]
- ASHG 2022 in Los Angeles brings together researchers from around the world to advance discoveries in genetics, genomics research - EurekAlert - October 13th, 2022 [October 13th, 2022]
- Maze Therapeutics Appoints Harold Bernstein, M.D., Ph.D., as President, Research and Development and Chief Medical Officer - Yahoo Finance - October 13th, 2022 [October 13th, 2022]
- The Age of the Pangenome Dawns - DNA Science - PLOS - October 13th, 2022 [October 13th, 2022]
- Influence of the microbiome, diet and genetics on inter-individual variation in the human plasma metabolome - Nature.com - October 13th, 2022 [October 13th, 2022]
- Genome editing technologies: final conclusions of the re-examination of Article 13 of the Oviedo Convention - Council of Europe - October 13th, 2022 [October 13th, 2022]
- Global Biobank Meta-analysis Initiative making genome-wide association studies more diverse and representative - EurekAlert - October 13th, 2022 [October 13th, 2022]
- New NHS genetic testing service could save thousands of children in England - The Guardian - October 13th, 2022 [October 13th, 2022]
- Covid protection may be boosted by genes, study shows - Yahoo News Australia - October 13th, 2022 [October 13th, 2022]
- Genomics in Cancer Care Market is estimated to be US$ 72.61 billion by 2032 with a CAGR of 16.3% during the forecast period 2032 - By PMI -... - October 13th, 2022 [October 13th, 2022]
- Identification of hub genes and candidate herbal treatment in obesity through integrated bioinformatic analysis and reverse network pharmacology |... - October 13th, 2022 [October 13th, 2022]
- Our *Homo sapiens* ancestors shared the world with Neanderthals, Denisovans and other types of humans whose DNA lives on in our genes -... - October 8th, 2022 [October 8th, 2022]
- Blue Eyed People Have a Single Ancestor | History of Yesterday - History of Yesterday - October 6th, 2022 [October 6th, 2022]
- Heart infection could be cause of death of Polish, US hero - ABC News - October 6th, 2022 [October 6th, 2022]
- 23andMe Announces Trials-in-Progress Poster Presentation on 23ME-00610, An Investigational Antibody Targeting CD200R1, at The Society for... - October 6th, 2022 [October 6th, 2022]
- The Genetic Drivers Of Longevity In Mice, Humans And Worms - Science 2.0 - October 6th, 2022 [October 6th, 2022]
- ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma | Communications Biology - Nature.com - October 6th, 2022 [October 6th, 2022]
- 'Neanderthal Man' Nobel Prize winner Svante Pbo revolutionized anthropology. Here is a look back at his groundbreaking 2014 memoir - Genetic Literacy... - October 6th, 2022 [October 6th, 2022]
- Understanding Human Genetic Variation - NCBI Bookshelf - September 14th, 2022 [September 14th, 2022]
- Genetics - National Institute of General Medical Sciences (NIGMS) - September 14th, 2022 [September 14th, 2022]
- People with ME invited to take part in major genetic study - The Independent - September 14th, 2022 [September 14th, 2022]
- Ketamine Promising for Rare Condition Linked to Autism - Medscape - September 14th, 2022 [September 14th, 2022]
- How a small, unassuming fish helps reveal gene adaptations - University of Wisconsin-Madison - September 14th, 2022 [September 14th, 2022]
- How Nutrigenomics Explores Links Between Nutrition And Genes - Health Digest - September 14th, 2022 [September 14th, 2022]