Reprogenetic News Roundup #7
Reprogenetic News Roundup #7
Orchid launches! | FDA warms to human genome editing | Chinese testing policy | Israeli sperm retrieval | Singapore reprotech debate...
Welcome to this week’s Reprogenetic News Roundup! There is a lot of big news this week, summarized below:
Embryo Selection
Orchid launches world’s first whole genome screening for embryos
Le Monde profiles pro-natalists Malcom and Simone Collins (from October)
Gene Editing
FDA warming to human genome editing, fearing international competition
Other Repro/Genetic Policies & Debates
Chinese policies and practices in preimplantation genetic testing for monogenic diseases
Israeli government facilitates sperm retrieval for fallen soldiers
Dr. Alexis Heng provides a holistic outline reprotech issues, calling for a public consultation on reprogenetic technologies.
We have decided to not systematically flag genetic studies on health risks, other phenotypic traits, and ancestry. There are too many to list and referencing them is likely better done by GWAS databases (some of which you can find in our Resources section).
We accept the decades of behavioral genetic research finding that “all psychological traits show significant and substantial genetic influence” (Robert Plomin et al, 2016) and that there has been significant recent and partially regionalized human evolution. As such, genetic studies will be flagged only if these seem significant to general readers.
Embryo Selection
Orchid launches world’s first whole genome screening for embryos (Orchid)
Reprogenetics company Orchid is now offering the world’s first whole genome screening for embryos: “Parents can get 100x more data about their embryos’ genomes, empowering them to make an informed decision and give their baby the best chance at a healthy start.”
“Choosing to have a baby is life changing. Despite advancements in genetics and reproductive technology, there is still a huge amount left to chance. People worry a disease they suffer from, or a family member suffers from, will harm their future child’s wellbeing.”
Orchid reads 99% of an embryo’s genome, screens for over 1200 monogenic conditions, including for neurodevelopmental disorders, cancers, birth defects, and chromosomal abnormalities.
Orchid also provides genetic predisposition screening for brain health (Alzheimer’s, bipolar disorder, schizophrenia), heart health, breast and prostate cancers, and general health (Celiac disease, inflammatory bowel disease, and Type 1 and Type 2 diabetes).
IVF fertility centers in the United States can offer Orchid as an option and enable prospective parents to select the embry with a lower chance of developing these disorders.
Orchid investors include George Church (professor of genetics at Harvard Medical School and MIT), Elad Gil, Vitalik Buterin (co-founder of Ethereum), Anne Wojcicki (co-founder and CEO of 23andMe).
“The Americans crusading to have as many children as possible, and save humanity” (Le Monde)
France’s newspaper of record published on 29 October a profile of Malcolm and Simone Collins, a couple with four children who advocate for pro-natalism and embryo selection.
The article notes that Elon Musk has similar concerns, having cited the 2006 dysgenic comedy film Idiocracy. Musk has 11 children with three women, including by donating sperm to one of his employees to conceive twins.
Simone Collins is pregnant with another child and hope to have 7. As they have fertility issues, the Collinses have used in vitro fertilization to conceive, with a cost of almost $20,000 per cycle.
Simone Collins argues for using IVF and embryo selection to lower the child’s genetic risk of anxiety, cancer, schizophrenia, and other disorders. Her current fetus is apparently the first to have been selected for higher genotypic intelligence.
Psychology Professor Eric Turkheimer and Katie Hasson (Center for Genetics and Society, an anti-enhancement group) are cited arguing against the practice as being either ineffective or “eugenic.”
The Collinses’ ideas are developed in their book, published in January 2023, The Pragmatist’s Guide to Crafting Religion: A Playbook for Sculpting Cultures that Overcome Demographic Collapse and Facilitate Long-Term Human Flourishing.
The couple has since launced the Collins Institute for the Gifted, an alternative method for homeschooling highly gifted children. The two are highly critical of the U.S. public education system.
Gene editing
“U.S. FDA’s confidence in gene editing safety growing enough that regulatory bar may be lowered” (Citeline Regulatory)
The U.S. Food and Drug Administration’s thinking on gene editing in human embryos has been evolving over the past year and the agency is considering a more relaxed approach.
Speaking at the NORD Breakthrough Summit (a major event on rare diseases) in October, Peter Marks, Director of the FDA’s Center for Biologics Evaluation and Research (CBER), said U.S. regulators may have initially set the bar too high for some gene editing products.
He suggested the U.S. may have to consider whether to maintain its ban on creating embryos with heritable genetic modifications if other countries allow the practice.
Director Marks said: “We may adjust the bar a little bit. We would like to recalibrate and for people to know that we’re open to consideration and you don’t have to go to another regulator.”
He added: “We’re moving so fast here. This is a fast pace for a regulator.”
Director Marks said New Zealand and Australia have become sites for some of the first in vivo gene editing trials and partially blamed safety worries for more trials not being conducted in the U.S.
Critical perspectives on human gene editing:
“AI and human gene editing: techno-pessimism and techno-scams” (Center for Genetics and Society). Contains many interesting links.
“Scientists still can’t be trusted on gene editing” (The Progressive)
Repro/genetics Policies & Debates
“Development of preimplantation genetic testing for monogenic diseases in China” (Human Fertility)
The article looks at policies and practice of preimplantation genetic testing for monogeneic diseases (PGT-M) in China.
China is estimated to have over 10 million people with monogenic diseases. Most monogenic diseases with a prevalence rate exceeding 1% still lack effective treatments and have high disability, dysgnosia, and mortality rates.
In China, PGT-M is permitted to interrupt the transmission of severe diseases with clear genetic diagnosis or linkage markers, including monogenic diseases, mitochondrial disease, HLA typing and hereditary cancer syndromes.
In the past two decades, PGT-M is widely applied in China, covering blood disorders (such as Alpha (α-) and Beta (β-) thalassaemia, sickle cell anaemia and haemophilia), muscle disorders (such as Duchenne Muscular Dystrophy, Spinal Muscular Atrophy (SMA)), metabolic disorders (Phenylketonuria (PKU)), sensory disorders (hereditary hearing loss), and mental disabilities (such as Fragile X syndrome (FXS)).
PGT-M was regarded as contributing to the Chinese government’s policy in reducing overall birth defects. Rising numbers of reproductive centres have begun to encourage couples to take carrier screening before pregnancy for common genetic diseases in the Chinese population, including thalassaemia, SMA, and FXS.
The Chinese Board of Genetic Counselling (CBGC) was founded in 2015, which aims to standardize workflow of genetic counselling and promote the standardization, professionalization, and normalization of genetic counselling.
While the demand for genetic counselling services is growing rapidly, availability is limited to a few large cities. Genetic testing is not covered by national insurance.
In 2021, the Ministry of Human Resources and Social Security, together with the State Administration for Market Regulation and National Bureau of Statistics, released 16 newly recognized careers including “birth deficiency diagnostic counsellor,” contributing to the development of professional skills in the area of heredity.
In 2015, the first so-called “cancer-free baby” for China was born in Reproductive and Genetic Hospital of Citic-Xiangya with the help of PGT, where the transmission of retinoblastoma allele (which predisposes to cancer) in the family was blocked.
In China, sex selection is only permitted for PGT for sex-linked disorders; social sex selection is not allowed.
It is hard to objectively define the proper range of what constitutes “serious disease” where PGT-M can be legitimately used. A recent Chinese experts’ consensus asserts it is necessary to comprehensively consider the severity of the disease and the actual situation of the patients.
According to from the National Health Commission of the People’s Republic of China, as of December 2020 there were 78 licensed reproductive centres to carry out PGT-M among 536 reproductive medical institutions in the country.
In recent years, public awareness and screening for rare genetic diseases have played an important role in disease prevention through government-sponsored projects. For example, in South China, special education programs were created to make the public aware of the existence of thalassaemia, which led to a very high acceptance rate of thalassaemia screening programs. As a result, the birth rate of thalassaemia patients has dropped dramatically.
The Chinese government has strongly promoted health education for birth defects prevention and control, premarital medical examination, pre-pregnancy health examination, folic acid supplementation to prevent neural tube defects and other primary prevention services to reduce the risk of birth defects.
The infant mortality rate and under-five mortality rate caused by birth defects have been significantly reduced, and the incidence of major birth defects such as Down syndrome, neural tube defects, congenital hydrocephalus, and limb shortening are on the decline in China.
“‘We owe it to them’: Families of Israelis killed in war find new hope through sperm extraction” (CNN)
The Israeli government has a sperm retrieval program for fallen soldiers in the context of the current Israel-Gaza War. Red tape has been reduced to facilitate access.
Or Lamishpachot (Light to the Families) is a non-profit organization supporting families of fallen soldiers which has long campaigned for parents to have access to posthumous sperm retrieval.
Gil Siegal, head of the Center for Health Law and Bioethics at Kiryat Ono College in Israel and faculty at the University of Virginia Law School, said: “It’s not by accident that Israel is a pioneer in reproductive medicine. The combination of high-tech medicine and a strong cultural, religious and existentialist bent for reproduction results in the highest number of IVF clinics per capita and the highest number of IVF cycles for women in the world. . . . We have the science and know-how on the one hand and on the second hand we have the impetus, which is religion, culture and history.”
“Public consultation needed on Singapore’s reproductive technologies” (UCA News)
Dr. Alexis Heng, associate professor of medical science at Peking University, China, argues that Singapore’s Bioethics Advisory Committee (BAC) should review ethical, legal, and social issues associated with emerging reproductive technologies.
He notes that “Singapore has increasingly leveraged new reproductive technologies to overcome the country’s rapidly aging demographics and dismal fertility rate, which hit a new low in 2022.” Singapore’s total fertility rate fell to 1.04 per woman that year.
The article reviews emerging reproductive technologies including in vitro gametogenesis (IVG), artificial womb technology (AWT, which will also enable us to save the lives and development of extremely premature babies), and synthetic human embryos from stem cells.
Dr. Heng notes that “AI-based embryo polygenic screening and human germline genome editing . . . can not only prevent and cure genetic diseases but can also be utilized for human enhancement. This refers to the screening, selection or genetic engineering of non-disease socially desirable traits in human offspring, such as higher IQ, tallness, and fair complexion.”
Bioethical issues raised by emerging reprotechnologies include:
Treatment of age-related female infertility.
Posthumous reproduction for bereaved spouses and parents. Tissues and cells could be harvested from a recently-deceased loved one to have a child. This could be highly controversial, especially if there is no informed consent from the deceased, and there are ethical concerns about the rights, welfare, and psychological impact on posthumous children. [Editor’s note: this is already practiced by the Israeli government, see above.]
Use of such technologies by de facto same-sex couples (gay and lesbian marriages are banned in Singapore) to beget offspring that are genetically related to both partners. Even if use of such reproductive technologies is banned for same-sex couples in Singapore, these can still be done overseas. Dr. Heng argues the resulting offspring will pose a quagmire for the Singapore government, which has to resolve legal issues pertaining to residency, citizenship, and parenthood rights.
IVG technology can facilitate the mass production of donor sperm and eggs for infertile patients, which are currently in short supply worldwide. A contentious issue would be the mass production of donor eggs and sperm from highly desirable and accomplished individuals such as famous actors and actresses, fashion models, sports stars, brilliant scientists, and acclaimed musicians, to supply boutique “eugenics” agencies.
A key technical bottleneck in AI-based embryo polygenic screening and human germline genome editing is the limited number of embryos available for screening, selection, or gene modification. This may be overcome through IVG technology or the generation of synthetic human embryos from stem cells. These could be also be the basis for human enhancement.
The use of artificial womb technology to could enable healthy and fertile women to avoid the physical burdens and pains of pregnancy and childbirth, so as to achieve a new form of gender equality, as well as obviate the need to take maternity leave.
If synthetic human embryos generated entirely from stem cells can be proven to be fully capable of generating a live offspring upon transfer into either a natural human womb or artificial womb, then questions will arise on their personhood and moral status and whether it is ethical to use them for various non-reproductive biomedical applications. For example, synthetic human embryos can serve as a source of transplantable tissues and organs, as well as a screening and testing platform for newly developed pharmaceutical drugs.
More on repro/genetics…
“Effect of accessibility of a genetic counselor on uptake of preimplantation genetic testing for aneuploidy (PGT-A) and carrier screening for patients undergoing in vitro fertilization” (Journal of Genetic Counseling)
“OneGene PGT: comprehensive preimplantation genetic testing method utilizing next-generation sequencing” (Journal of Assisted Reproductive Genetics)
“Prenatal screening after preimplantation genetic testing-aneuploidy: time to evaluate old strategies” (Reproductive BioMedicine Online)
“IVF may offer the best chance for twin babies in Thailand” (Vejthani Hospital)
“How humans could evolve into another species” (IFL Science)
Genetic Studies
“The heritability of economic preferences” (SSRN)
“Sex and race differences in obesity-related genetic susceptibility and risk of cardiometabolic disease in older us adults” (JAMA Network Open)
“A gene involved in the formation of age spots has been identified” (PR TIMES, Japan)
“New genes can arise from nothing” (ScienceDaily)
Further Learning
Tina Sikka, Health Apps, Genetic Diets and Superfoods: When Biopolitics Meets Neoliberalism (forthcoming: August 2024)