Hot Topics: Genetics

Blog Posts (131)

November 21, 2017

Is Your Polygenic Risk Score a Good Thing?

Back in October, Jon Holmlund wrote a blog entry regarding the popular company 23andMe and their collection of your health-related information along with your genetic material. I missed the significance of that relationship at the time. It took a recent article in Technology Review by my favorite technology writer Antonio Regalado to raise my ethical antennae. In his article, he explains the nexus of big... // Read More »
November 16, 2017

More about gene therapy and human gene editing

To my post of last week, add the case of a 44 year-old man who has received gene therapy for an inherited metabolic disease called Hunter’s syndrome. This is another example of a form of gene editing as true therapy.  That is, an existing individual is given a construct intended to edit his genes to introduce a gene that makes an enzyme that is lacking... // Read More »
November 10, 2017

There’s gene therapy and there’s gene therapy

I’ve seen a number of different things described in the general press as “gene therapy.” But they are indeed different.  It’s important to be specific. For one, there’s the situation where a set of mature human cells are obtained from the person to be treated and genetically altered outside the body to make them into a potentially useful treatment, then re-administered (by vein) to the... // Read More »
November 10, 2017

There’s gene therapy and there’s gene therapy

I’ve seen a number of different things described in the general press as “gene therapy.” But they are indeed different.  It’s important to be specific. For one, there’s the situation where a set of mature human cells are obtained from the person to be treated and genetically altered outside the body to make them into a potentially useful treatment, then re-administered (by vein) to the... // Read More »
October 13, 2017

Two cases of genetics ethics issues

There is an ongoing NIH-sponsored database effort called the Genotype-Tissue Expression (GTEx) project the goal of which is to collect data on genetics–not just DNA gene sequences, but also gene activity, looking at “expression,” which is reflected in the RNA that is transcribed from genes–in a wide range of human tissues.  The tissues are obtained from deceased voluntary organ donors.  The ethical issues are not... // Read More »
October 6, 2017

Human gene editing marches on

Nature has recently carried two new reports of human gene editing.  In one, embryos donated from an IVF clinic had a gene critical to very early development altered, to study what happens when you do that, and try to understand early human development more than we now do.  In the other, scientists studied editing of an abnormal recessive gene, specifically the one causing a type... // Read More »
October 3, 2017

Is Obfuscation Ever Helpful in Science or Ethics?

Obfuscation and science would seem to be polar opposites. The scientific method hinges upon correctly identifying what one starts with, making a single known alteration in that starting point, and then accurately determining what one ends up with. Scientific knowledge results from this process. Accidental obfuscation in that three-step process necessarily limits the knowledge that could potentially be gleaned from the method. Peer review normally... // Read More »
September 1, 2017

Questioning whether genes in human embryos were in fact successfully edited

Nature reports that the editing of a gene in human embryos–reported earlier in August and discussed recently on this blog–has been questioned by a different group of scientists. Read a fuller, general-public-level description here. The questioning scientists doubt a specific claim of the initial work; namely, that a faulty gene in human sperm was edited through a corresponding gene in the human egg fertilized by... // Read More »
August 29, 2017

Memo To White Nationalists From A Geneticist: Why White Purity Is A Terrible Idea

On August 14th, UCLA researchers Aaron Panofsky and Joan Donovan presented findings of their study,  “When Genetics Challenges a Racist’s Identity: Genetic Ancestry Testing among White Nationalists,” at a sociology conference in Montreal. They’d analyzed 3,070 comments organized into 70 threads publicly posted to the (sometimes difficult to access) “social movement online community”  Stormfront.

Former KKK Grand Wizard Don Black launched Stormfront on March 27, 1995. Posts exceed 12 million, ramping up since the 2016 election season. Panofsky and Donovan’s report has a lot of sociology speak, such as “scholars of whiteness” and “affiliative self-fashioning,” amid some quite alarming posts – yet also reveals a sophisticated understanding of genetics from some contributors.


“We are the voice of the new, embattled White minority!”proclaims the bold, blood-tinged-hued message on the opening page of Stormfront, the “community of racial realists and idealists.” It’s a site for white nationalists, who are a little less extreme than white supremacists, who want to dominate the world from their pinnacle of a perceived racial hierarchy. The Stormfronters seem more concerned with establishing their white purity – defined as “non-Jewish people of wholly European descent.”

Yet the lines between white nationalist and supremacist blur, as Stormfront states, “If Blacks or Mexicans become a majority, then they will not be able to maintain the White man’s social, cultural and economic systems because they do not have to (sic) minds needed to do so.”

The idea of white rights is rather new, catalyzed by the revolts of the truly marginalized, murdered, abused, ignored, and enslaved. In the past, whiteness was equated to lack of race, much as I thought as a child of vanilla as a lack of chocolate. Use of genetic ancestry testing to confirm one’s concept of pure whiteness is also somewhat new, a subversion of technology that is disturbing to this geneticist whose grandparents escaped the pogroms of eastern Europe.

Of the 153 folks on Stormfront brave enough to post their genetic ancestry test results, 53 were relieved. “Pretty much what I expected but it was good to get it confirmed,” proclaimed one. A participant named Sloth found out he has “pretty damn pure blood” from Scandinavia, the British Isles, and Iceland, prompting him to plan a getaway to Iceland and get a Thor’s hammer tattoo. Another relieved Stormfronter, worried that “Their (sic) might be American indian or jew in the mix because I tan really easily,” was happy to learn he’s “100% white! HURRAY!”

The other 100 genetic test-takers weren’t so thrilled with their results, seeking excuses. My favorite: “These companies are quite liberal about ensuring every white person gets a little sprinkling of non-white DNA (we know who owns and runs these companies).” ErikTheWhite helpfully added that the genetic testing company 23andMe is deploying Jewish DNA to create bioweapons to kill pure whites as if the DNA replication machinery checks in with the religion of the person.

But an impressive 1260 posts were about the science, several debating what DNA ancestry tests can and cannot do. I agree that the tests provide partial information that may, in fact, be trumped by a look in the mirror or a chat with great-grandma. Deep ancestry testing only provides partial glimpses of parts of the world where some ancestors may have come from. I have a map of my own roots – just what my grandmother told me.


DNA-based ancestry testing, from companies such as FamilyTreeDNA23andMe, and compare parts of the genome that vary in DNA sequence among individuals from people living in different geographical areas, say Charlottesville and Kenya. In addition, mapping sequential changes in gene variant frequencies with places reveals ancient migration routes, which often jibe with historical knowledge.

Results seem overly simplistic. A “Genetic Ethnicity Summary” from, for example, “reveals where your ancestors lived hundreds-perhaps even thousands of years ago”to be 57% Scandinavian, 32% British Aisles, 8% Eastern European, and 3% Uncertain. Many Stormfronters are disturbed by the uncertainty. The Jewish sprinkles?

The maps and diagrams the testing companies provide aren’t overtly racist, at least compared to the 1890 Census categories of mulatto (half black and half white), quadro (one-fourth black), or octaroon (one-eighth black).

The genomic points of comparison include autosomal swaths, but covering only parts of the non-sex-chromosomes – the autosomes – offers just signpoints, and are a far cry from comparing complete genome sequences. Mitochondrial and Y chromosome DNA sequences are considered too but must be interpreted in context, and with the proverbial grain of salt.

Mitochondrial DNA passes only from mothers, to all offspring, and is used to trace maternal lineage. Groups of linked genes (haplogroups) on the dinky Y are used to trace the paternal lineage. Mt and Y DNA can trace ancient migrations and the echoes of history, like stretches of Genghis Khan’s Y that today are in 1 in every 200 males (~16 million!) living between Afghanistan and northeast of China, reflecting waves of rapes by Genghis and his male descendants since the 13th century.

It’s easier to see that Y and mtDNA represent only a few of thousands of ancestors with a diagram. (DNAeXplained)

But there’s a hitch: mitochondrial and Y DNA comprise <1% of a genome and are only a tiny two of thousands of lineages contributing to the genome of a person living today.

Other problems lurk behind the pretty pie charts and percentages of ancestry test results:

• Tests don’t include all parts of the world.
• A new mutation could place a person in the wrong population group.
• Companies compare clients’ DNA to their own proprietary databases, and so white nationalists can shop around, seeking acceptable findings. It’s a little like my daughter’s elementary school approach to misspelled words on quizzes: “I just won’t ever use those words, mommy!”
• DNA ancestry testing projects current databases of population genetic variability back in time, assuming gene variant patterns were the same.
• Databases may not include people who’ve died young from a genetic disease.


That we all came from Africa is written into our genomes, represented by stretches of DNA so common, so much the same in all of us, that it would be nonsensical to include them in tests meant to detect varying DNA sequences. Even the most powerful KKK Imperial Wizard, if he understood genetics, couldn’t whitewash the reality of our African origins. Yet a Stormfront post comforted a man who was distraught that his Genetic Ethnic Summary included Senegal with “… you are simply related to some White fool who left some of his DNA with the locals in what is now Senegal.”

One post revealed a bizarrely accurate take on Mendelian inheritance. AngryGoy follows only mtDNA and Y chromosome information, despite their representation of <1% of the genome, because they are “pure.” His reasoning: Y chromosome DNA is transmitted entirely and unchanged from male to male and mtDNA is transmitted entirely and unchanged from female to all offspring. But autosomal DNA is halved at each generation as the two copies of each chromosome separate into different eggs or sperm.

He goes a step farther: a bi-racial female with a white mother or bi-racial male with a white father are “the lesser of two evils” because at least the mtDNA and Y DNA are untainted. This logic escaped me when I wrote the sections on mtDNA and Y DNA in my genetics books.

Stormfront considers the mtDNA and Y argument to be a version of the one-drop rule. Which leads me to the oft-evoked metaphor of blood for genetic ancestry, which isn’t even accurate because the red blood cells that impart the characteristic color do not even have any DNA!


Claims Stormfront: “In a nutshell, the problem with humanity is not so much one of ideology – this or that religious, political, social, or economic doctrine – but rather one of blood. That is, that a great deal (possibly 90% or more) of a person’s intelligence and character is determined by their DNA, which determines the structure of their brain before they are born.”

The statement reeks of genetic determinism, the idea that our traits arise predominantly if not entirely from our genes. The 90% suggests a reference to heritability, which for intelligence ranges from 50% to 80%, depending upon the study consulted. But heritability isn’t the genetic contribution to a trait. Rather, it’s the genetic contribution to the VARIABILITY of a trait.

Writings from Nazi Germany mention “good blood” and “pure blood,” with a lone drop enough to confer non-purity. I’m reminded of the episode of All in the Family in which bigot Archie Bunker is horrified to learn he’s about to receive a transfusion from a black, female, West Indian physician who shares his rare blood type. “Not to worry,” she cautions him with a grin, “when you come out (of) the anesthetic, you might have a strange craving for watermelon.”

The Nazis quest for pure Aryan blood entailed both positive and negative eugenics. The Lebensborn program, begun in 1935, took the children from “unwed mothers” knocked up by the SS and placed them in good Aryan homes, and also placed appropriately blue-eyed, blond orphans in homes, while murdering millions who didn’t fit the Aryan definition of Nordic people from England, Germany, Denmark, Sweden, or Norway. Excluded whites were Roma, ethnic Poles, Slavics, and of course Jews, all deemed subhuman by the self-appointed master race.

The Nazi “Law for the Prevention of Hereditarily Diseased Offspring” provided a list. While hereditary blindness and deafness and “Hereditary chorea” are single-gene conditions, “Congenital Mental Deficiency, Schizophrenia, Manic-Depressive Insanity, Hereditary Epilepsy,” and “any severe hereditary deformity” are not. Yet Genetic Health Courts ruled on who should be sterilized to halt transmission of faulty genes.


Some people on Stormfront ask what to do after learning their genetic ancestry is not what they expected. Most answers are polite, but some are variations on “If you do care about the White race, don’t breed with any White women, therefore not polluting our gene pool.”

Intentionally restricting a gene pool (a term that describes a population, not a person or family) to promote a perceived superiority is a real headscratcher to anyone who knows any biology whatsoever.

Survival stems from genetic diversity – not sameness. That’s why sexual reproduction has been so successful: A plague can’t wipe out a population if some members are resistant to the pathogen thanks to gene variants. Conversely, a field of genetically identical anything is vulnerable to change. So Craig Cobb, the white nationalist who inspired Panofsky and Donovan’s project when he was mortified onstage when confronted with genetic ancestry test results indicating he’s 14% African, should instead be thankful that he’s not 100% white.

The idea is straightforward. Members of the same ancestral population having children together increases the chance that mutations inherited from recently shared ancestors will show up in a child. The close relationships amplify the distribution of mutations, and incidence of certain single-gene diseases increases.

The phrase “Jewish genetic diseases” isn’t prejudicial; it states a biological fact. The mass murders of Jews throughout history have strangled their genetic diversity, creating serial population bottlenecks that have concentrated certain disease-causing mutations that made it through the pogroms and Holocaust. And so we have Canavan disease, Tay-Sachs disease, familial dysautonomia, and some two dozen other illnesses that strike other families too, but us with higher frequency

The Amish and Mennonites too have much higher incidence of several single-gene diseases that they brought in from Europe. For example, maple syrup urine disease affects 1 in 400 newborns in these groups, but only 1 in 225,000 in the general population.

But wait! The Amish brought those bad genes in from Switzerland and the Mennonites from the Netherlands, and they’re certainly not Jewish. Pure white Europeans can have mutations???


Consider cystic fibrosis. DNA in teeth discovered in a graveyard in Austria along the Danube left there between 544 and 255 BC yielded the most common CF mutation. (See Discovery of the Principal Cystic Fibrosis Mutation (F508del) in Ancient DNA from Iron Age Europeans).

Isn’t Austria more or less the epicenter of white purity?

Going from the population to the molecular level, new evidence has shown that if two people are carriers of certain CF mutations that affect opposite ends of the gene, the genes can complement, encoding correctly-folded proteins that function, so that their children don’t actually face the 25% risk of inheriting the disease. The best way to have parents carrying different mutations is for them to have come from different population groups.

Genetic diversity can protect; genetic sameness empowers mutations. I guess the Nazi list of Hereditarily Diseased Offspring missed the genetic diseases of European whites. It is selective pseudoscience.

And so scientifically, the white nationalists, white supremacists, and neo-Nazis have it all wrong. For DNA doesn’t discriminate – it just assorts itself in sync to our patterns of procreation.


To a geneticist, the idea of supremacy, intellectual or otherwise, based on minimal distribution of a pigment molecule in skin is meaningless, if not outright idiotic. Yet it has dictated so much of our history, fueled so much senseless hatred. So I’ll end with an explanation of human skin color, from my human genetics textbook:

“The definition of race based largely on skin color is more a social construct than a biological concept, because skin color is only one of thousands of traits whose frequencies vary in different populations. We may classify people by skin color because it is an obvious visible way to distinguish individuals, but this trait is not a reliable indicator of ancestry. The concept of race based on skin color falls apart when considering many genes. That is, two people with very dark skin may be less alike than either is to another person with very light skin. Overall, 93% of varying inherited traits are no more common in people of one skin color than any other.”

Skin color arises as melanin molecules are produced and packaged into sacs called melanosomes in cells called melanocytes. The pigment-packed melanocytes snake between the tile-like epidermal cells, releasing melanin granules that are broken into bits and pushed upward as the skin cells divide below. The bits of color darken the skin, protecting it from ultraviolet radiation.

Several genes control melanin production and dispersal, and we vary in skin color. Having more melanin is an adaptation, not a liability! So where did white people come from? The prevailing hypothesis has been that white skin captures more sunshine, making it possible to produce vitamin D and keeping bones strong. A study from David Reich’s lab at Harvard identified 3 genes that brought white skin to Europe.

People who left Africa for Europe about 40,000 years ago had dark skin. Then about 8500 years ago, hunter-gatherers from Spain, Luxembourg, and Hungary brought in variants of the genes SLC24A5 and SLC45A2, which impair the ability to make and distribute melanin. Farther north, where the lower light would have made white skin even more advantageous, evidence from southern Sweden shows contribution from the third gene, HERC2/OCA2, which conferred not only pale skin but blue eyes and blond hair too. Finally, farmers from the Near East also brought in gene variants for white skin. Amid all this mixing, natural selection and perhaps human behavior favored whiteness. Completely wiping out these genes causes albinism, so if anyone could be called mutant, it’s white people, not the brown and black.

Could one type of pigment molecule, controlled by just 3 of our 20,633 genes, fuel so much bigotry?


I applaud Panofsky and Donovan’s revelation of the twisting of genetic ancestry testing to validate white nationalism and its slippery slope to white supremacy. The technology has been helpful in many ways: solving crimes, reuniting families dispersed by slavery, and finding relatives after disasters. Let’s hope that the taking of genetic testing to the dark side of white supremacy backfires, bringing a greater appreciation of our essential biological diversity.

The Alden March Bioethics Institute offers a Master of Science in Bioethics, a Doctorate of Professional Studies in Bioethics, and a Graduate Certificate in Clinical Ethics. For more information on AMBI's online graduate programs, please visit our website.  




August 17, 2017

Search and destroy—or at least, select

This week’s issue of Nature carries a feature article on the explosion of preimplantation genetic diagnosis (PGD) in China.  Because women are having children later in life, partly because of relaxation of the old one-child policy; because Chinese culture sees it as a duty to seek to bear healthy children; because some Chinese want to try to enable their kids to exploit some features of... // Read More »

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Published Articles (63)

AJOB Primary Research: Volume 8 Issue 4 - Dec 2017

“Will they be good enough parents?”: Ethical dilemmas, views, and decisions among assisted reproductive technology (ART) providers Robert Klitzman

AJOB Primary Research: Volume 8 Issue 4 - Dec 2017

How should we deal with misattributed paternity? A survey of lay public attitudes Georgia Lowe, Jonathan Pugh, Guy Kahane, Louise Corben, Sharon Lewis, Martin Delatycki & Julian Savulescu

American Journal of Bioethics: Volume 17 Issue 7 - Jul 2017

Modernizing Research Regulations Is Not Enough: It's Time to Think Outside the Regulatory Box Suzanne M. Rivera, Kyle B. Brothers, R. Jean Cadigan, Heather L. Harrell, Mark A. Rothstein, Richard R. Sharp & Aaron J. Goldenberg

AJOB Primary Research: Volume 8 Issue 2 - Apr 2017

When bins blur: Patient perspectives on categories of results from clinical whole genome sequencing Leila Jamal, Jill O. Robinson, Kurt D. Christensen, Jennifer Blumenthal-Barby, Melody J. Slashinski, Denise Lautenbach Perry, Jason L. Vassy, Julia Wycliff, Robert C. Green & Amy L. McGuire

American Journal of Bioethics: Volume 17 Issue 5 - May 2017

Genetic Fingerprints and National Security Beau P. Sperry, Megan Allyse & Richard R. Sharp

American Journal of Bioethics: Volume 17 Issue 4 - Apr 2017

Psychiatric Genomics and Mental Health Treatment: Setting the Ethical Agenda Camillia Kong, Michael Dunn & Michael Parker

American Journal of Bioethics: Volume 17 Issue 4 - Apr 2017

Psychiatric Genetics in a Risk Society Nicole Martinez-Martin

American Journal of Bioethics: Volume 17 Issue 1 - Jan 2017

A Framework for Unrestricted Prenatal Whole-Genome Sequencing: Respecting and Enhancing the Autonomy of Prospective Parents Stephanie C. Chen & David T. Wasserman

American Journal of Bioethics: Volume 17 Issue 1 - Jan 2017

Modern Pregnancies and (Im)Perfect Babies Stephanie A. Kraft

American Journal of Bioethics: Volume 16 Issue 12 - Dec 2016

Does Lack of “Genetic-Relative Family Health History” Represent a Potentially Avoidable Health Disparity for Adoptees? Thomas May, Kimberly A. Strong, Kaija L. Zusevics, Jessica Jeruzal, Michael H. Farrell, Alison LaPean Kirschner, Arthur R. Derse, James P. Evans & Harold D. Grotevant

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News (902)

December 25, 2017 9:00 am

The uncharted emotional territory of gifting DNA tests to family (NBC News)

The family that spits together might not want to receive their health results together. In the new era of DNA testing, there can be tricky family dynamics.

November 13, 2017 9:00 am

Scientists save a kid by growing a whole new skin for him (Wired)

In October, the Italians sent the new skin back to Germany, and the boy’s doctors carefully laid them into areas they’d scoured of any dead or infected flesh, first to his arms and legs. When another batch arrived in November they did his chest and back. In January they touched up any spots they’d missed. Seven and a half months after he was admitted, the boy walked out the hospital doors, wound-free—the recipient of the largest-ever infusion of transgenic stem cells.

November 3, 2017 9:00 am

‘Base editors’ open new way to fix mutations (Science)

CRISPR has vastly simplified the ability to edit DNA, but there’s one thing this new technology is not particularly good at: fixing what are known as point mutations, the cause of many human genetic diseases. Now, two new papers, one in Science and the other in Nature, describe a tool called base editing that borrows heavily from CRISPR and excels at correcting the point mutations.

October 25, 2017 9:00 am

These gene-edited pigs are hearty and lean—but how will they taste? (Science)

“Lean” may not be the term you associate with a good bacon strip or pork chop. But these leaner, cold-hardier piglets, created through CRISPR gene editing, could be a hit with the pork industry.

October 19, 2017 9:00 am

The future of DNA sequencing (Nature)

What will the next 40 years bring? Prognosticators are typically wrong about which technologies — or, more importantly, which applications — will be the most disruptive. We would probably fare no better in predicting the future of DNA sequencing. So instead, we offer a framework for thinking about it. Our central message is that trends in DNA sequencing will be driven by killer applications, not by killer technologies.

October 13, 2017 9:00 am

Navajo Nation reconsiders ban on genetic research (Nature)

When the Navajo Nation opens its first oncology centre next year in Tuba City, Arizona, clinicians there may be able to offer a service that has been banned on tribal lands for 15 years: analyzing the DNA of Navajo tribe members to guide treatments and study the genetic roots of disease.

October 9, 2017 9:00 am

Uganda removes key hurdle to GM crops (Science)

Biotech researchers here are celebrating the long-awaited passage of a bill this week that clears the way for large-scale field tests and commercial release of genetically modified (GM) crops. Uganda, with several engineered varieties waiting in the wings, is expected to join a handful of other African nations moving quickly to bring homegrown GM foods to the market.

September 5, 2017 9:00 am

F.D.A. Approves First Gene-Altering Leukemia Treatment, Costing $475,000 (The New York Times)

The Food and Drug Administration on Wednesday approved the first-ever treatment that genetically alters a patient’s own cells to fight cancer, a milestone that is expected to transform treatment in the coming years.

August 22, 2017 9:00 am

China’s embrace of embryo selection raises thorny questions (Nature)

Early experiments are beginning to show how genome-editing technologies such as CRISPR might one day fix disease-causing mutations before embryos are implanted. But refining the techniques and getting regulatory approval will take years. PGD has already helped thousands of couples. And whereas the expansion of PGD around the world has generally been slow, in China, it is starting to explode.

August 16, 2017 9:00 am

Commit to talks on patient data and public health (Nature)

Of course it was going to happen — and now it has. Last week, an international team reported the use of CRISPR–Cas9 gene-editing techniques to correct a heart-wrenching mutation in human embryos. These attempts worked several times more efficiently than previous ones had, and avoided introducing new genetic errors. Although the embryos were never destined to be used for pregnancies (and have now been destroyed), the work — carried out mainly in the United States — makes it easy to foresee practical applications to genetically alter human embryos.

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