SCOOP: Largest Cryobank in the U.S. to Offer Ancestry Testing
Sharon Kochlany and Vanessa Colimorio's four-year-old twin girls had a classic school assignment recently: make a family tree. They drew themselves and their one-year-old brother branching off from their moms, with aunts, uncles, and grandparents forking off to the sides.
The recently-gained sovereignty of queer families stands to be lost if a consumer DNA test brings a stranger's identity out of the woodwork.
What you don't see in the invisible space between Kochlany and Colimorio, however, is the sperm donor they used to conceive all three children.
To look at a family tree like this is to see in its purest form that kinship can supersede biology—the boundaries of where this family starts and stops are clear to everyone in it, in spite of a third party's genetic involvement. This kind of self-definition has always been synonymous with LGBTQ families, especially those that rely on donor gametes (sperm or eggs) to exist.
But the world around them has changed quite suddenly: The recent consumer DNA testing boom has made it more complicated than ever for families built through reproductive technology—openly, not secretively—to maintain the strong sense of autonomy and privacy that can be crucial for their emotional security. Prospective parents and cryobanks are now mulling how best to bring a new generation of donor-conceived people into this world in a way that leaves open the choice to know more about their ancestry without obliterating an equally important choice: the right not to know about biological relatives.
For queer parents who have long fought for social acceptance, having a biological relationship to their children has been revolutionary, and using an unknown donor as a means to this end especially so. Getting help from a friend often comes with the expectation that the friend will also have social involvement in the family, which some people are comfortable with, but being able to access sperm from an unknown donor—which queer parents have only been able to openly do since the early 1980s—grants them the reproductive autonomy to create families seemingly on their own. That recently-gained sovereignty stands to be lost if a consumer DNA test brings a stranger's identity out of the woodwork.
At the same time, it's natural for donor-conceived people to want to know more about where they come from ethnically, even if they don't want to know the identity of their donor. As a donor-conceived person myself, I know my donor's self-reported ethnicity, but have often wondered how accurate it is.
Opening the Pandora's box of a consumer DNA test as a way to find out has always felt profoundly unappealing to me, however. Many people have accidentally learned they're donor-conceived by unwittingly using these tools, but I already know that about myself going in, and subsequently know I'll be connected to a large web of people whose existence I'm not interested in learning about. In addition to possibly identifying my anonymous donor, his family could also show up, along with any donor-siblings—other people with whom I share a donor. My single lesbian mom is enough for me, and the trade off to learn more about my ethnic ancestry has never seemed worth it.
In 1992, when I was born, no one was planning for how consumer DNA tests might upend or illuminate one's sense of self. But the donor community has always had to stay nimble with balancing privacy concerns and psychological well-being, so it should come as no surprise that figuring out how to do so in 2020 includes finding a way to offer ancestry insight while circumventing consumer DNA tests.
A New Paradigm
This is the rationale behind unprecedented industry news that LeapsMag can exclusively break: Within the next few weeks, California Cryobank, the largest cryobank in the country, will begin offering genetically-verified ancestry information on the free public part of every donor's anonymous profile in its database, something no other cryobanks yet offer (an exact launch date was not available at the time of publication). Currently, California Cryobank's donor profiles include a short self-reported list that might merely say, "Ancestry: German, Lebanese, Scottish."
The new information will be a report in pie chart form that details exactly what percentages of a donor's DNA come from up to 26 ethnicities—it's analogous to, but on a smaller scale than, the format offered by consumer DNA testing companies, and uses the same base technology that looks for single nucleotide polymorphisms in DNA that are associated with specific ethnicities. But crucially, because the donor takes the DNA test through California Cryobank, not a consumer-facing service, the information is not connected in a network to anyone else's DNA test. It's also taken before any offspring exist so there's no chance of revealing a donor-conceived person's identity this way.
Later, when a donor-conceived person is born, grows up, and wants information about their ethnicity from the donor side, all they need is their donor's anonymous ID number to look it up. The donor-conceived person never takes a genetic test, and therefore also can't accidentally find donor siblings this way. People who want to be connected to donor siblings can use a sibling registry where other people who want to be found share donor ID numbers and look for matches (this is something that's been available for decades, and remains so).
"With genetic testing, you have no control over who reaches out to you, and at what point in your life."
California Cryobank will require all new donors to consent to this extra level of genetic testing, setting a new standard for what information prospective parents and donor-conceived people can expect to have. In the immediate, this information will be most useful for prospective parents looking for donors with specific backgrounds, possibly ones similar to their own.
It's a solution that was actually hiding in plain sight. Two years ago, California Cryobank's partner Sema4, the company handling the genetic carrier testing that's used to screen for heritable diseases, started analyzing ethnic data in its samples. That extra information was being collected because it can help calculate a more accurate assessment of genetic risks that run in certain populations—like Ashkenazi Jews and Tay Sachs disease—than relying on oral family histories. Shortly after a plan to start collecting these extra data, Jamie Shamonki, chief medical officer of California Cryobank, realized the companies would be sitting on a goldmine for a different reason.
"I didn't want to use one of these genetic testing companies like Ancestry to accomplish this," says Shamonki. "The whole thing we're trying to accomplish is also privacy."
Consumer-facing DNA testing companies are not HIPAA compliant (whereas Sema4, which isn't direct-to-consumer, is HIPAA compliant), which means there are no legal privacy protections covering people who add their DNA to these databases. Although some companies, like 23andMe, allow users to opt-out of being connected with genetic relatives, the language can be confusing to navigate, requires a high level of knowledge and self-advocacy on the user's part, and, as an opt-out system, is not set up to protect the user from unwanted information by default; many unwittingly walk right into such information as a result.
Additionally, because consumer-facing DNA testing companies operate outside the legal purview that applies to other health care entities, like hospitals, even a person who does opt-out of being linked to genetic relatives is not protected in perpetuity from being re-identified in the future by a change in company policy. The safest option for people with privacy concerns is to stay out of these databases altogether.
For California Cryobank, the new information about donor heritage won't retroactively be added to older profiles in the system, so donor-conceived people who already exist won't benefit from the ancestry tool, but it'll be the new standard going forward. The company has about 500 available donors right now, many of which have been in their registry for a while; about 100 of those donors, all new, will have this ancestry data on their profiles.
Shamonki says it has taken about two years to get to the point of publicly including ancestry information on a donor's profile because it takes about nine months of medical and psychological screening for a donor to go from walking through the door to being added to their registry. The company wanted to wait to launch until it could offer this information for a significant number of donors. As more new donors come online under the new protocol, the number with ancestry information on their profiles will go up.
For Parents: An Unexpected Complication
While this change will no doubt be welcome progress for LGBTQ families contemplating parenthood, it'll never be possible to put this entire new order back in the box. What are such families who already have donor-conceived children losing in today's world of widespread consumer genetic testing?
Kochlany and Colimorio's twins aren't themselves much older than the moment at-home DNA testing really started to take off. They were born in 2015, and two years later the industry saw its most significant spike. By now, more than 26 million people's DNA is in databases like 23andMe and Ancestry; as a result, it's estimated that within a year, 90 percent of Americans of European descent will be identifiable through these consumer databases, by way of genetic third cousins, even if they didn't want to be found and never took the test themselves. This was the principle behind solving the Golden State Killer cold case.
The waning of privacy through consumer DNA testing fundamentally clashes with the priorities of the cyrobank industry, which has long sought to protect the privacy of donor-conceived people, even as open identification became standard. Since the 1980s, donors have been able to allow their identity to be released to any offspring who is at least 18 and wants the information. Lesbian moms pushed for this option early on so their children—who would obviously know they couldn't possibly be the biological product of both parents—would never feel cut off from the chance to know more about themselves. But importantly, the openness is not a two-way street: the donors can't ever ask for the identities of their offspring. It's the latter that consumer DNA testing really puts at stake.
"23andMe basically created the possibility that there will be donors who will have contact with their donor-conceived children, and that's not something that I think the donor community is comfortable with," says I. Glenn Cohen, director of Harvard Law School's Center for Health Law Policy, Biotechnology & Bioethics. "That's about the donor's autonomy, not the rearing parents' autonomy, or the donor-conceived child's autonomy."
Kochlany and Colimorio have an open identification donor and fully support their children reaching out to California Cryobank to get more information about him if they want to when they're 18, but having a singular name revealed isn't the same thing as having contact, nor is it the same thing as revealing a web of dozens of extended genetic relations. Their concern now is that if their kids participate in genetic testing, a stranger—someone they're careful to refer to as only "the donor" and never "dad"—will reach out to the children to begin some kind of relationship. They know other people who are contemplating giving their children DNA tests, and feel staunchly that it wouldn't be right for their family.
"With genetic testing, you have no control over who reaches out to you, and at what point in your life," Kochlany says. "[People] reaching out and trying to say, 'Hey I know who your dad is' throws a curveball. It's like, 'Wait, I never thought I had a dad.' It might put insecurities in their minds."
"We want them to have the opportunity to choose whether or not they want to reach out," Colimorio adds.
Kochlany says that when their twins are old enough to start asking questions, she and Colimorio plan to frame it like this: "The donor was kind of like a technology that helped us make you a person, and make sure that you exist," she says, role playing a conversation with their kids. "But it's not necessarily that you're looking to this person [for] support or love, or because you're missing a piece."
It's a line in the sand that's present even for couples still far off from conceiving. When Mallory Schwartz, a film and TV producer in Los Angeles, and Lauren Pietra, a marriage and family therapy associate (and Shamonki's step-daughter), talk about getting married someday, it's a package deal with talking about how they'll approach having kids. They feel there are too many variables and choices to make around family planning as a same-sex couple these days to not have those conversations simultaneously. Consumer DNA databases are already on their minds.
"It frustrates me that the DNA databases are just totally unregulated," says Schwartz. "I hope they are by the time we do this. I think everyone deserves a right to privacy when making your family [using a sperm donor]."
"I wouldn't want to create a world where people who are donor-conceived feel like they can't participate in this technology because they're trying to shut out [other] information."
On the prospect of having a donor relation pop up non-consensually for a future child, Pietra says, "I don't like it. It would be really disappointing if the child didn't want [contact], and unfortunately they're on the receiving end."
You can see how important preserving the right to keep this door closed is when you look at what's going on at The Sperm Bank of California. This pioneering cryobank was the first in the world to openly serve LGBTQ people and single women, and also the first to offer the open identification option when it opened in 1982, but not as many people are asking for their donor's identity as expected.
"We're finding a third of young people are coming forward for their donor's identity," says Alice Ruby, executive director. "We thought it would be a higher number." Viewed the other way, two-thirds of the donor-conceived people who could ethically get their donor's identity through The Sperm Bank of California are not asking the cryobank for it.
Ruby says that part of what historically made an open identification program appealing, rather than invasive or nerve-wracking, is how rigidly it's always been formatted around mutual consent, and protects against surprises for all parties. Those [donor-conceived people] who wanted more information were never barred from it, while those who wanted to remain in the dark could. No one group's wish eclipsed the other's. The potential breakdown of a system built around consent, expectations, and respect for privacy is why unregulated consumer DNA testing is most concerning to her as a path for connecting with genetic relatives.
For the last few decades in cryobanks around the world, the largest cohort of people seeking out donor sperm has been lesbian couples, followed by single women. For infertile heterosexual couples, the smallest client demographic, Ruby says donor sperm offers a solution to a medical problem, but in contrast, it historically "provided the ability for [lesbian] couples and single moms to have some reproductive autonomy." Yes, it was still a solution to a biological problem, but it was also a solution to a social one.
The Sperm Bank of California updated its registration forms to include language urging parents, donor-conceived people, and donors not to use consumer DNA tests, and to go through the cryobank if they, understandably, want to learn more about who they're connected to. But truthfully, there's not much else cryobanks can do to protect clients on any side of the donor transaction from surprise contact right now—especially not from relatives of the donor who may not even know someone in their family has donated sperm.
A Tricky Position
Personally, I've known I was donor-conceived from day one. It has never been a source of confusion, angst, or curiosity, and in fact has never loomed particularly large for me in any way. I see it merely as a type of reproductive technology—on par with in vitro fertilization—that enabled me to exist, and, now that I do exist, is irrelevant. Being confronted with my donor's identity or any donor siblings would make this fact of my conception bigger than I need it to be, as an adult with a full-blown identity derived from all of my other life experiences. But I still wonder about the minutiae of my ethnicity in much the same way as anyone else who wonders, and feel there's no safe way for me to find out without relinquishing some of my existential independence.
The author and her mom in spring of 1998.
"People obviously want to participate in 23andMe and Ancestry because they're interested in knowing more about themselves," says Shamonki. "I wouldn't want to create a world where people who are donor-conceived feel like they can't participate in this technology because they're trying to shut out [other] information."
After all, it was the allure of that exact conceit—knowing more about oneself—that seemed to magnetically draw in millions of people to these tools in the first place. It's an experience that clearly taps into a population-wide psychic need, even—perhaps especially—if one's origins are a mystery.
Would You Eat These Futuristic Foods?
Imagine it's 2050. You wake up and make breakfast: fluffy scrambled eggs that didn't come from a chicken, but that taste identical to the ones you remember eating as a kid. You would never know that the egg protein on your plate, ovalbumin, was developed in an industrial bioreactor using fungi.
"We have this freedom to operate, freedom to engineer way beyond what we have now with livestock or plants."
For lunch, you head to your kitchen's 3D printer and pop in a cartridge, select your preferred texture and flavor, then stand back while your meal is chemically assembled. Afterward, for dessert, you snack on some chocolate that tastes more delicious than the truffles of the past. That's because these cocoa beans were gene-edited to improve their flavor.
2050 is not a random year –it's when the United Nations estimates that the world population will have ballooned to nearly 10 billion people. That's a staggering number of mouths to feed. So, scientists are already working on ways to make new food products that are unlike anything we consume today, but that could offer new, potentially improved nutritional choices and sustainable options for the masses. To whet your appetite, here are three futuristic types of food that are currently in development around the world:
1) Cellular Agriculture
Researchers at VTT Technical Research Centre of Finland, a leading R&D organization in Europe, are on the cutting-edge of developing a whole new ecosystem of food with novel ingredients and novel functionality.
In the high-tech world of cellular agriculture, single-cell organisms can be used in contained environments to produce food ingredients that are identical to traditionally sourced ingredients. For example, whey protein can be developed inside a bioreactor that is functionally the same as the kind in cow's milk.
Ditto for eggs without a chicken – so the world will finally know which came first.
The steel tank bioreactors in VTT´s piloting facility are used to grow larger amounts of plant cells or to brew dairy and egg proteins with microbes.
(VTT)
"We take the gene from a chicken genome, and place that in a microbe, and then the microbe can, with those instructions, make exactly the same protein," explains Lauri Reuter, a Senior Specialist at VTT who holds a doctorate in biotechnology. "It will swim in this bioreactor and kick out the protein, and we get this liquid that can be purified. Then you would cook or bake with it, and the food you would eat tastes and looks like food you would eat right now."
But why settle for what chickens can do? With this technology, it's possible, for example, to modify the ovalbumin protein to decrease its allergenicity.
"This is the power of what we can do with modern tools of genetic engineering," says Christopher Landowski,a Research Team Leader of the Protein Production Team. And the innovative potential doesn't stop there.
"We have this freedom to operate, freedom to engineer way beyond what we have now with livestock or plants," Reuter says. Future foods sourced from cells could include meat analogues, sugar substitutes, dairy substitutes, nutritious veggies that don't taste bitter, personalized nutrition – ingredients designed for individual needs; the list goes on. It could even be used one day to produce food on Mars.
The researchers emphasize the advantages of this method: their living cell factories are efficient – no care of complex animals is required; they can scale up or down in reaction to demand; their environments are contained and don't require antibiotics; and they provide an alternative to using animals.
But the researchers also readily admit that the biggest obstacle is consumer acceptance, which is why they seek to engage with people along the way to alleviate any concerns and to educate them about the technology. Novel foods of this sort have already been eaten in research settings, but it may take another three to five years before the egg and milk proteins hit the market, probably first in the United States before Europe.
Eventually, the researchers anticipate widespread adoption.
Emilia Nordlund, who directs the Food Solutions team, predicts, "Cellular agriculture will revolutionize the food industry as dramatically as the Internet revolutionized many other industries."
Jams made of culture cells of various plants: strawberry, scurvy grass, arctic bramble, tobacco, cloudberry and lingonberry.
(VTT/Lauri Reuter)
2) 3D-printed foods
In South Korea, researchers are developing 3D-printed foods to help solve a problem caused by aging. Elderly people often rely on soft foods which are easier to chew, but aren't always healthy, like Jello and pudding.
With 3D printing, foods of softer textures can be created with the same nutritional value as firmer food, via a processing method that breaks down the food into tiny nutrients by grinding it at a very low temperature with liquid nitrogen.
"The goal is that someone at home can print out food with whatever flavor and texture they want."
The micro-sized food materials are then reconstructed in layers to form what looks like a Lego block. "The cartridges are all textures, some soft and some stiff," explains Jin-Kyu Rhee, associate professor at Ewha Womans University, whose project has been funded for the last three years by the South Korean government. "We are developing a library of food textures, so that people can combine them to simulate a real type of food."
Users could then add powdered versions of various ingredients to create customized food. Flavor, of course, is of prime importance too, so the cartridges have flavors like barbecue to help simulate the experience of eating "real" food.
"The goal is that someone at home can print out food with whatever flavor and texture they want," Rhee says. "They can order their own cartridge and digital recipes to generate their own food, ready to cook with a microwave oven." It could also be used for space travel.
Rhee expects the prototype of the printer to be completed by the end of this year and will then seek out a commercial partner. If all goes well, you might be able to set up your 3D printer next to your coffee pot by 2025.
3) CRISPR-edited foods
You may not know that the cocoa plant is having a tough time out there in nature. It's plagued by fungal disease; on farms, about 30 to 40 percent of the potential cocoa beans are lost every year. For all the chocolate lovers of the world, this means less to go around.
Conventional plant breeding is very slow for trees, so researchers like Mark Guiltinan at Penn State University are devising ways to increase the plants' chances for survival – without moving any genes between species, as in genetically modified organisms (GMOs).
"Because society hasn't really embraced [GMOs] very much, we're trying to develop ways that don't use transgenic plants and speed up breeding," Guiltinan says.
He and his colleagues are using CRISPR-cas9, the precise method of editing DNA, to imbue cocoa plants with immunity to fungal disease.
How does it work? Similar to humans, the plants have an immune system. Part of it functions like brakes, repressing the whole system so it's only working when it needs to.
"Like when you get a fever, your immune system is working full blast, but your body shuts it down when it doesn't need it," he explains. "Plants do exactly the same thing. One idea is if we can reduce or eliminate that brake on the immune system, we could make plants that have a very high immunity."
A CRISPR-edited npr3 mutant cacao plantlet, not too much to see yet, but soon it will become a happy plant in the greenhouse.
(Photo credit: Mark Guiltinan)
The CRISPR-cas9 system allows "a really amazing little protein" to go into the cocoa plant cell, find a specific gene, and shut it off to put the whole immune system into overdrive. This confers the necessary immunity, and though the plant burns through a lot of energy, as if it has a fever all the time, this method would allow for more plants to fend off the fungal attacks every year. Which means more chocolate. It could also greatly reduce the need for pesticides.
"Replacing chemicals with genetics is one part of our goal," Guiltinan says. "And it's totally safe." Another goal of his project is to improve the cocoa beans' quality and flavor profile through gene editing.
Yum. Is your mouth watering yet?
Kira Peikoff was the editor-in-chief of Leaps.org from 2017 to 2021. As a journalist, her work has appeared in The New York Times, Newsweek, Nautilus, Popular Mechanics, The New York Academy of Sciences, and other outlets. She is also the author of four suspense novels that explore controversial issues arising from scientific innovation: Living Proof, No Time to Die, Die Again Tomorrow, and Mother Knows Best. Peikoff holds a B.A. in Journalism from New York University and an M.S. in Bioethics from Columbia University. She lives in New Jersey with her husband and two young sons. Follow her on Twitter @KiraPeikoff.
Got a Virus? Its Name Matters More Than You Think
It's a familiar scenario: You show up at the doctor feeling miserable—sneezing, coughing, lethargic. We've all been there. And we've all been told the same answer: we're suffering from "a virus."
Failing to establish a specific microbial cause undermines the health of individual patients—and potentially the public at large.
Some patients may be satisfied with that diagnosis, others may be frustrated, and still others may demand antibiotic treatment for a bacterial infection that is usually not even present. As an infectious disease doctor who specializes in pandemic preparedness, I detest using the catch-all "virus" diagnosis for a range of symptoms from common colds to life-threatening pneumonias to unexplained fevers. Failing to establish a specific microbial cause undermines the health of individual patients—and potentially the public at large.
Confirming a specific diagnosis to determine which virus is behind those nasty symptoms is not just an academic exercise. The benefits are plentiful. Patients can forego antibiotic treatment, possibly benefit from antiviral treatment, understand their illness, and be given a prognosis. Additionally, if hospitalized, patients with certain viral infections require specific types of precautions so as not to spread the virus within the hospital.
Another largely undervalued benefit of such an approach is that it allows experts to begin assembling an arsenal of tools that might stave off a global health catastrophe. With severe pandemics, such as the 1918 influenza pandemic that killed 50 to 100 million people, it can be challenging to predict which of the myriad microbial species (bacteria, viruses, fungi, parasites, prions) will be the most likely cause. Many different approaches to prediction exist, but there is a general lack of rigorous analysis about what it takes for any microorganism to reach the pantheon of pandemic pathogens. My colleagues and I at the Johns Hopkins Center for Health Security recently developed a new framework to understand the characteristics of pandemic pathogens.
One of our major conclusions is that the most likely pandemic pathogen will be viral and spread through respiratory means. Viruses rise to the top of the list because, when compared to other types of infectious agents, they have several features that confer pandemic potential: they mutate a lot, the speed of infection is rapid, and there are no broad-spectrum antivirals akin to broad-spectrum antibacterial agents. Contagion through breathing, coughing, and sneezing is likely because it is much more difficult for standard public health measures to extinguish respiratory spread agents compared to other routes of transmission like food, body fluids, or mosquitoes.
With this information, physicians and scientists can begin taking actions to prevent spread of the infection by developing vaccines, testing antiviral compounds, and making diagnostic tests for concerning viruses.
Many of the viral families that could pose a pandemic threat are very common causes of upper respiratory infections like influenza, the common cold, and bronchitis. These viruses cause a wide range of illnesses from mild coughs to serious pneumonias. Indeed, the 2009 H1N1 influenza pandemic virus was discovered in San Diego in a child with very mild illness in whom viral diagnostic testing was pursued. This event highlights the fact that such diseases are not only found in exotic locations in the developing world, but could appear anywhere.
Understanding the patterns of respiratory virus infections -- how frequent they are, which strains are predominating, changes in severity of disease, expanding geographic range -- may provide a glimpse into the first forays of a new human virus or an alert to changing behavior from a well-known virus. With this information, physicians and scientists can begin taking actions to prevent spread of the infection by developing vaccines, testing antiviral compounds, and making diagnostic tests for concerning viruses. Additionally, alerts to healthcare providers will provide greater situational awareness of the patterns of infection.
So, the next time you are given a wastebasket diagnosis of "viral syndrome," push your doctor a little harder. In 2018, we have countless diagnostic tests for viral infections available, many at the point-of-care, that too few physicians use. Not only will you be more satisfied with a real diagnosis, you may be spared an unnecessary course of antibiotics. You can also rest assured that having a name for your virus will help epidemiologists doing a very important job. While we have not yet technologically achieved the famed Tricorder of Star Trek fame that diagnoses everything with a sweep of the hand, using the tools we do have could be one of the keys to detecting the next pandemic virus early enough to intervene.
Dr. Adalja is focused on emerging infectious disease, pandemic preparedness, and biosecurity. He has served on US government panels tasked with developing guidelines for the treatment of plague, botulism, and anthrax in mass casualty settings and the system of care for infectious disease emergencies, and as an external advisor to the New York City Health and Hospital Emergency Management Highly Infectious Disease training program, as well as on a FEMA working group on nuclear disaster recovery. Dr. Adalja is an Associate Editor of the journal Health Security. He was a coeditor of the volume Global Catastrophic Biological Risks, a contributing author for the Handbook of Bioterrorism and Disaster Medicine, the Emergency Medicine CorePendium, Clinical Microbiology Made Ridiculously Simple, UpToDate's section on biological terrorism, and a NATO volume on bioterrorism. He has also published in such journals as the New England Journal of Medicine, the Journal of Infectious Diseases, Clinical Infectious Diseases, Emerging Infectious Diseases, and the Annals of Emergency Medicine. He is a board-certified physician in internal medicine, emergency medicine, infectious diseases, and critical care medicine. Follow him on Twitter: @AmeshAA