Reprogenetic News Roundup #11
Reprogenetic News Roundup #11
Sperm donation in U.S., Endeavor Health launches PRS program, Pope calls for surrogacy ban, East Asians and education, South Americans and Alzheimer's, income and health, bisexuality, clickbait...
Welcome to the latest issue of the Reprogenetic News Roundup! Highlights from this week’s edition:
Repro/genetics
New York Times: why anonymous sperm donation is over, and why that matters
Chicagoland’s Endeavor Health launches PRS genetic testing program to better prevent and treat diseases
Psychology Today: why it is important for donor-conceived people to know about the family and medical history of their donor parents
Pope Francis calls for global ban on surrogacy
Wall Street Journal: over 1 million embryos are in cold storage in the U.S.
Genetic Studies
Korean study reveals links between genetics and educational attainment in East Asians
South American study reveals Argentines and Chileans have genetic variants linked to Alzheimer’s shared with Europeans
A GWAS of 670,000 individuals on income, socioeconomics, and health
Study suggests Neanderhals split from Homo sapiens only 408,000 years ago
The share of media reporting on genetic studies that is “clickbait” is declining
A study found common genes associated with male risk-taking, bisexual behavior, and number of offspring
Further Learning
Repro/genetics
“Why anonymous sperm donation is over, and why that matters” (New York Times)
The article highlights the story of a man conceived through donor sperm and his discovery of being unrelated to his legal father. He went on a search to find his biological father to understand himself better.
Recent findings in behavioral science show the role of genetics in shaping certain individual characteristics. Questionnaires from doctors routinely ask for generations of family medical history.
The U.S. Donor Conceived Council is a group that advocates for more transparency on donor anonymity.
Widespread use of DNA technology has ended any guarantee of anonymity for donors.
Major sperm banks in the United States are requiring donors to agree to disclose their medical histories up front and reveal their identities when a child turns 18.
Activists want the government to ban anonymous donation. A year ago, they succeeded in making Colorado the first state to mandate that sperm and egg banks disclose donors’ identities to children who ask for the information once they turn 18. A bill introduced in the New York Senate would impose a similar requirement and also give parents of donor-conceived children access to a donor’s identifying information at birth.
Other donor-conceived people and LGBTQ groups says laws ending donor anonymity will mean biological donors will be recognized as parents and possibly undermine the legitimacy of LGBTQ families.
Lesbian couples and single parents make up 70% of people using sperm donors, according to a 2022 study of an assisted-reproduction clinic.
Seven states have laws fully protecting families formed through nongenetic bonds, according to a report by several L.G.B.T.Q. groups.
In a recent case in Oklahoma, a lesbian couple divorced after having a donor-conceived baby. A judge ruled that the nonbiological mother lacked parental rights because she hadn’t adopted the child and granted the sperm donor parental rights alongside the biological mother.
In many states, if you are part of a couple raising a child, and you never marry or you get a divorce, and your partner wants to sever the connection, you can be deemed a legal stranger to a child you helped raise but with whom you don’t share a genetic tie.
A 2010 survey, called “My Daddy’s Name Is Donor” and funded by the Institute for American Values, a conservative group, claimed that many donor-conceived children felt hurt and isolated by their origins.
Some activists want donor-conceived children to be able to learn their donor’s identity at an age younger than 18, though others fear this will destabilize families.
In Britain, one of several countries that mandates disclosure at a child’s request at 18, the agency that regulates fertility treatments last month proposed including the name of every sperm or egg donor on a child’s birth certificate and allowing families to access the information beginning at birth.
Donor-conceived people sometimes grow up to meet their “diblings” (donor siblings) and form ties with them.
“Endeavor launches new genetic testing program” (Chicago Business)
Endeavor Health, a Chicagoland health system of nine regional hospitals and over 300 care locations, is expanding its program of genetic risk assessment by offering “groundbreaking” testing to assess lifetime genomic risk for cardiovascular, cardiometabolic disease, neurologic, oncologic, urologic and other common diseases.
Endeavor said it is among the first providers in the U.S. to provide clinical-grade Polygenic Risk Score (PRS) testing.
Endeavor’s Genomic Health Initiative is partnering with Chicago-based GenomicMD, a CLIA-certified laboratory, to generate the personalized genetic risk assessments for complex conditions.
The Genomic Health Initiative is one of the U.S.’s largest genetic biorepositories and will support the collaboration by adding more PRS panels.
“Knowing one’s PRS scores can help patients and their physicians take proactive steps to ensure early detection or avoid disease altogether through informed lifestyle changes, disease screening and prevention,” said Jianfeng Xu, Endeavor Health’s vice president of translational research. “Self-reported family history alone provides an incomplete assessment of a patient’s inherited risk.”
Through testing, Endeavor Health primary care physicians and specialists will develop personalized care paths and patient management.
“Xu and Endeavor Health have spent more than a decade studying the clinical utility of PRS. Endeavor Health research indicates that PRS can identify two to four times more individuals at increased risk for disease when compared to family history alone,” said Jason Lobel, CEO and co-founder of GenomicMD.
NorthShore University Health System, now part of Endeavor, launched its Advanced Primary Care genomics program in 2014. To date, more than 50,000 patients have participated in the program to identify genetic risk factors for common disorders, resulting in early diagnosis, prevention strategies and personalized treatment options.
“DNA matters: psychological differences in donor families” (Psychology Today)
There is a large genetic component in many mental illnesses. The heritability of autism may be as high as 70%. OCD, schizophrenia, major depressive disorder, alcohol dependence, and even completed suicides, are all influenced by genetics. 80% of people who are diagnosed with bipolar disorder are born with specific genetic mutations.
Studies on donor-conceived people (DCP) show that a primary reason for searching for one’s biological parent or half-siblings is to learn more about their family medical history, current medical issues, and possible predispositions.
In a survey of 1700 woman sperm donor recipients, more than 93% said they would not have purchased the sperm of a donor who had produced offspring with autism.
There is speculation whether autistic traits tend to be more common among sperm donors, as this may favor emotional disconnect from the offspring.
The article argues for the need for more comprehensive and regulated medical/psychological testing of donors, including updates on medical developments (many illnesses are adult-onset).
While many gamete selling facilities claim to conduct regular medical updates of donors, this is rarely done. Donors with reported genetic physical or mental illness/issues should not have their gametes continue to be sold, the author argues.
All medical updates should be available to all families who might purchase or who have purchased gametes, and all donors should also be aware of children born with any health issues. The importance of sharing important medical and psychological information goes both ways as donors may be building families of their own.
“Pope Francis calls for global ban on surrogacy” (New York Times)
Pope Francis has called surrogate motherhood a “despicable” practice that should be universally banned for its “commercialization” of pregnancy.
Francis said: “I consider despicable the practice of so-called surrogate motherhood, which represents a grave violation of the dignity of the woman and the child, based on the exploitation of situations of the mother’s material needs.”
A child, he said, should never be “the basis of a commercial contract,” and called for a global ban on surrogacy.
Francis has in the past called surrogacy “uterus for rent,” a term often used by Italy’s right-wing Prime Minister Giorgia Meloni, who also opposes the practice.
More on repro/genetics:
“More than a million embryos are in cold storage. What should happen to them?” (Wall Street Journal)
Almost half of women women who froze their eggs at the Brussels IVF Center the attempted to have a child after the age of 40. Of these, around 80% succeeded in having a child with their own eggs. (Le Spécialiste)
“Optimizing non-invasive preimplantation genetic testing: investigating culture conditions, sample collection, and IVF treatment for improved non-invasive PGT-A results” (Journal of Assisted Reproduction and Genetics)
“Cracking the genetic blueprint of weight: DNA Corporation’s obesity gene testing kit” (Übergizmo)
“What is genetic carrier screening and why should couples get it” (India Times)
“The ‘culture wars’ infection of anthropology and archaeology grows” (Genetic Literacy Project)
Genetic Studies
“‘Educational attainment of East Asians are linked to genetics’” (Korea Biomedical Review)
Until now, studies to identify genetic influences on educational attainment have been conducted primarily on Western populations.
The researchers conducted a genome-wide association study (GWAS) to identify genetic factors that influence educational attainment in East Asians by analyzing samples from 176,400 people at biobanks in Korea and Taiwan.
It is the first largescale GWAS on educational achievement in East Asians. This confirmed the association between educational attainment and genetics, similar to previous European studies. The genetic structure, background, and effects associated with educational achievement in Europe were largely consistent in East Asians.
The study identified 102 locations strongly associated with educational attainment. The genetic variants identified so far can explain about 10% of total variance in educational attainment.
The researchers stressed this paves the way for a better understanding of Korean traits. Future studies may have implications for disease treatment of Koreans.
“The significance of our study is that we understand the genetic architecture of educational attainment in East Asians and show that there are many genetic traits that are shared across ethnic groups,” Professor Myung Woo-jae of Seoul National University Bundang Hospital. “These findings can be used to study how educational attainment is associated with various diseases, such as dementia and mental disorders, and to identify ways to prevent and treat these diseases.”
The authors argue that their study “supports the need for further research on diverse ancestries to increase our understanding of the genetic basis of educational attainment.”
This is the largest genetic study of East Asians conducted through international collaboration. It was supported by South Korea’s Ministry of Science and ICT, Ministry of Health and Welfare, National Research Foundation, and the Samsung Medical Center.
The study, published in Nature Human Behavior, was widely reported in South Korean media (News1, MedWorld, DocDocDoc, E-Daily, Newsis, Money).
“Argentines and Chileans share with the European population genetic variants linked to the risk of Alzheimer’s” (Puntal, Argentina)
The first GWAS for Alzheimer’s disease in South American populations has been published.
“In our region it is not easy to manage multicenter studies that involve patients and control cases,” said Laura Morelli, CONICET researcher in the Brain Aging and Neurodegeneration Laboratory of the Leloir Institute Foundation (FIL) and one of the co-authors of the study that analyzed some 1,500 samples from Chile and Argentina. “While the number of participants is not large enough to determine with certainty new genes associated with Alzheimer’s in so-called mixed populations like ours (those that do not have a single ancestral origin, but are characterized by the mixture of ethnicities with diverse genetic background), it did serve to validate the findings obtained in the European population, where some 500,000 people have been studied.”
The genetic variants identified among South Americans must now be confirmed in larger studies.
Between 60 and 80% of Alzheimer’s cases have a genetic basis.
The authors note that most genetic studies on Alzheimer’s are limited to European-origin populations, limiting generalization to others.
Morelli said that Alzheimer’s risk predictors based on European-origin populations were valid for Chileans and Argentines, however “as the percentage of Amerindian ancestry increases, the predictive capacity decreases.”
The study was widely reported in Argentine media.
“Associations between common genetic variants and income provide insights about the socioeconomic health gradient” (bioRxiv)
This GWAS on income among 670,000 individuals of European descent identified 162 genomic loci associated with a common genetic factor underlying various income measures, all with small effect sizes.
The income factor showed a substantial genetic correlation (0.92) with educational attainment. Accounting for educational attainment’s genetic overlap with income revealed that the remaining genetic signal for higher income related to better mental health, reduced physical health benefits, and increased participation in risky behaviours such as drinking and smoking.
A phenome-wide association study using this polygenic index showed reduced risks for a broad spectrum of diseases, including hypertension, obesity, type 2 diabetes, coronary atherosclerosis, depression, asthma, and back pain.
“Neanderthals split from modern humans just 408,000 years ago, says new study” (IFL Science)
Statisticians at Tel-Aviv University recently used computer software called BEAST2 to study the genome of Neanderthals and Homo sapiens to work out the TMRCA (Time to Most Recent Common Ancestor). Their findings indicate that the split between modern humans and Neanderthals occurred 408,000 years ago.
Other recent evidence from fossils and DNA suggests that Neanderthal and modern human lineages separated 500,000-650,000 years ago. Previous estimates indicated that the divergence could have occurred over 800,000 years ago.
Genes from Neanderthals are especially prevalent in people of European descent who inherit about 2% from them. These genes still influence human populations today, such as the size of noses and vulnerability to viral infections.
The new study was published in BMC Genomic Data.
Genetic variants underlying human bisexual behavior are reproductively advantageous (Science Advances)
A largescale study of UK Biobank data found that male bisexual behavior is genetically positively correlated with the number of offspring.
This unexpected phenomenon is attributed to the horizontal pleiotropy of male risk-taking behavior–associated alleles: male risk-taking is genetically positively correlated with both bisexual behavior and offspring.
“Scientific clickbait: Examining media coverage and readability in genome-wide association research” (PLoS One)
The study analyzed a large corpus of English-language online media articles covering GWAS.
Trends in media coverage, readability, themes, and mentions of ethical and social issues were analyzed in over 5,000 websites published from 2005 to 2018 from 3,555 GWAS publications on 1,943 different traits, identified via GWAS Catalog.
The study found that 22.9% of GWAS papers received media attention but most were described in language too complex to be understood by the public.
Chronotype, educational attainment, alcohol and coffee consumption, sexual orientation, tanning, and hair color received substantially more attention than predicted by the authors’ regression model.
The prevalence of clickbait “one gene, one disease” headlines (e.g., “Scientists Say They’ve Found Gene That Causes Breast Cancer”) is declining over time.
More genetic studies:
“Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference” (Nature Genetics)
“Landmark study confirms five key Parkinson's Disease variants in largest meta-analysis” (News Medical)
“A leap forward in women’s health: Unlocking genetic clues to gestational diabetes” (Medical Xpress)
“Sexual behavior and cardiovascular diseases: univariable and multivariable Mendelian randomization” (Frontiers in Cardiovascular Medicine)
“Anorexia associated with being an early riser” (Health Day)
“Unraveling the genetic underpinning of insulin resistance and metabolic syndrome: new insights from genome-wide association studies” (Medriva)
“Largest genetic study of gestational diabetes discovers nine novel genetic regions linked to severe and common pregnancy complication” (News Medical)
“Polygenic risk score model for renal cell carcinoma in the Korean population and relationship with lifestyle-associated factors” (BMC Genomics)
“Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma” (Communications Biology)
“Meta-regression of genome-wide association studies to estimate age-varying genetic effects” (European Journal of Epidemiology)
“Thirteen discoveries made about human evolution in 2023” (Smithsonian Magazine)
“The heritability index in the diagnosis of giftedness and aptitude in children and adolescents” (Leistungssport, 1981)
Further Learning
“CRISPR tackles diverse single-gene conditions” (DNA Science)
In the wake of the FDA’s approval of the first CRISPR-based therapy, for sickle cell disease, Ricky Lewis looks at ongoing research to use CRISPR to treat monogenic conditions. CRISPR researchers are currently working to tackle phenylketonuria (PKU), Duchenne Muscular Dystrophy (DMD), Rett syndrome, LCA10 retinal blindness, cytinosis, Spinal Muscular Atrophy (SMA), among others.
Disclaimer: The Genetic Choice Project makes every effort to include only reputable and relevant news, studies, and analysis on reprogenetics. We cannot fact-check the linked-to stories and studies, nor do the views expressed necessarily reflect those of the Genetic Choice Project.