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.
The news last November that a rogue Chinese scientist had genetically altered the embryos of a pair of Chinese twins shocked the world. But although this use of advanced technology to change the human gene pool was premature, it was a harbinger of how genetic science will alter our healthcare, the way we make babies, the nature of the babies we make, and, ultimately, our sense of who and what we are as a species.
The healthcare applications of the genetics revolution are merely stations along the way to the ultimate destination.
But while the genetics revolution has already begun, we aren't prepared to handle these Promethean technologies responsibly.
By identifying the structure of DNA in the 1950s, Watson, Crick, Wilkins, and Franklin showed that the book of life was written in the DNA double helix. When the human genome project was completed in 2003, we saw how this book of human life could be transcribed. Painstaking research paired with advanced computational algorithms then showed what increasing numbers of genes do and how the genetic book of life can be read.
Now, with the advent of precision gene editing tools like CRISPR, we are seeing that the book of life -- and all biology -- can be re-written. Biology is being recognized as another form of readable, writable, and hackable information technology with we humans as the coders.
The impact of this transformation is being first experienced in our healthcare. Gene therapies including those extracting, re-engineering, then reintroducing a person's own cells enhanced into cancer-fighting supercells are already performing miracles in clinical trials. Thousands of applications have already been submitted to regulators across the globe for trials using gene therapies to address a host of other diseases.
Recently, the first gene editing of cells inside a person's body was deployed to treat the genetically relatively simple metabolic disorder Hunter syndrome, with many more applications to come. These new approaches are only the very first steps in our shift from the current system of generalized medicine based on population averages to precision medicine based on each patient's individual biology to predictive medicine based on AI-generated estimations of a person's future health state.
Jamie Metzl's groundbreaking new book, Hacking Darwin: Genetic Engineering and the Future of Humanity, explores how the genetic revolution is transforming our healthcare, the way we make babies, and the nature of and babies we make, what this means for each of us, and what we must all do now to prepare for what's coming.
This shift in our healthcare will ensure that millions and then billions of people will have their genomes sequenced as the foundation of their treatment. Big data analytics will then be used to compare at scale people's genotypes (what their genes say) to their phenotypes (how those genes are expressed over the course of their lives).
These massive datasets of genetic and life information will then make it possible to go far beyond the simple genetic analysis of today and to understand far more complex human diseases and traits influenced by hundreds or thousands of genes. Our understanding of this complex genetic system within the vaster ecosystem of our bodies and the environment around us will transform healthcare for the better and help us cure terrible diseases that have plagued our ancestors for millennia.
But as revolutionary as this challenge will be for medicine, the healthcare applications of the genetics revolution are merely stations along the way to the ultimate destination – a deep and fundamental transformation of our evolutionary trajectory as a species.
A first inkling of where we are heading can be seen in the direct-to-consumer genetic testing industry. Many people around the world have now sent their cheek swabs to companies like 23andMe for analysis. The information that comes back can tell people a lot about relatively simple genetic traits like carrier status for single gene mutation diseases, eye color, or whether they hate the taste of cilantro, but the information about complex traits like athletic predisposition, intelligence, or personality style today being shared by some of these companies is wildly misleading.
This will not always be the case. As the genetic and health data pools grow, analysis of large numbers of sequenced genomes will make it possible to apply big data analytics to predict some very complex genetic disease risks and the genetic components of traits like height, IQ, temperament, and personality style with increasing accuracy. This process, called "polygenic scoring," is already being offered in beta stage by a few companies and will become an ever bigger part of our lives going forward.
The most profound application of all this will be in our baby-making. Before making a decision about which of the fertilized eggs to implant, women undergoing in vitro fertilization can today elect to have a small number of cells extracted from their pre-implanted embryos and sequenced. With current technology, this can be used to screen for single-gene mutation diseases and other relatively simple disorders. Polygenic scoring, however, will soon make it possible to screen these early stage pre-implanted embryos to assess their risk of complex genetic diseases and even to make predictions about the heritable parts of complex human traits. The most intimate elements of being human will start feeling like high-pressure choices needing to be made by parents.
The limit of our imagination will become the most significant barrier to our recasting biology.
Adult stem cell technologies will then likely make it possible to generate hundreds or thousands of a woman's own eggs from her blood sample or skin graft. This would blow open the doors of reproductive possibility and allow parents to choose embryos with exceptional potential capabilities from a much larger set of options.
The complexity of human biology will place some limits to the extent of possible gene edits that might be made to these embryos, but all of biology, including our own, is extremely flexible. How else could all the diversity of life have emerged from a single cell nearly four billion years ago? The limit of our imagination will become the most significant barrier to our recasting biology.
But while we humans are gaining the powers of the gods, we aren't at all ready to use them.
The same tools that will help cure our worst afflictions, save our children, help us live longer, healthier, more robust lives will also open the door to potential abuses. Prospective parents with the best of intentions or governments with lax regulatory structures or aggressive ideas of how population-wide genetic engineering might be used to enhance national competitiveness or achieve some other goal could propel us into a genetic arms race that could undermine our essential diversity, dangerously divide societies, lead to dangerous, destabilizing, and potentially even deadly conflicts between us, and threaten our very humanity.
But while the advance of genetic technologies is inevitable, how it plays out is anything but. If we don't want the genetic revolution to undermine our species or lead to grave conflicts between genetic haves and have nots or between societies opting in and those opting out, now is the time when we need to make smart decisions based on our individual and collective best values. Although the technology driving the genetic revolution is new, the value systems we will need to optimize the benefits and minimize the harms of this massive transformation are ones we have been developing for thousands of years.
And while some very smart and well-intentioned scientists have been meeting to explore what comes next, it won't be enough for a few of even our wisest prophets to make decisions about the future of our species that will impact everyone. We'll also need smart regulations on both the national and international levels.
Every country will need to have its own regulatory guidelines for human genetic engineering based on both international best practices and the country's unique traditions and values. Because we are all one species, however, we will also ultimately need to develop guidelines that can apply to all of us.
As a first step toward making this possible, we must urgently launch a global, species-wide education effort and inclusive dialogue on the future of human genetic engineering that can eventually inform global norms that will need to underpin international regulations. This process will not be easy, but the alternative of an unregulated genetic arms race would be far worse.
The overlapping genomics and AI revolutions may seem like distant science fiction but are closer than you think. Far sooner than most people recognize, the inherent benefits of these technologies and competition between us will spark rapid adoption. Before that spark ignites, we have a brief moment to come together as a species like we never have before to articulate and translate into action the future we jointly envision. The north star of our best shared values can help us navigate the almost unimaginable opportunities and very real challenges that lie ahead.
Here's something to chew on. Can a gulp of water help save the planet? If you're drinking *and* eating your water at the same time, the answer may be yes.
The tasteless packaging is made from brown seaweed that biodegrades naturally in four to six weeks.
The Lowdown
A start-up company called Skipping Rocks Lab has created a "water bubble" encased in an edible sachet that you can pop in your mouth whole. Or if you're not into swallowing it, you can tear off the edge, drink up, and toss the rest in a composter. The tasteless packaging is made from brown seaweed that biodegrades naturally in four to six weeks, whereas plastic water bottles can linger for hundreds of years.
The founders of the London-based company are determined to "make plastic packaging disappear." They had two foodie inspirations: molecular gastronomists and fruit. They tried to emulate the way chefs used edible membranes to encase bubbles of liquid to make things like fake caviar and fake egg yolks; and they also considered the peel of an orange or banana, which protects the tasty insides but can be composted.
The sachets can also contain other liquids that come in single-serve plastic containers -- think packets of condiments with takeout meals, specialty cocktails at parties, and especially single servings of water for sporting events. The London Marathon last month gave out the water bubble pods at a station along the route, using them to replace 200,000 plastic bottles that would have likely ended up first in the street, and ultimately in the ocean.
Next Up
The engineers and chemists at Skipping Rocks intend to lease their machines to others who can then manufacture their own sachets on-site to fill with whatever they desire. The new material, which is dubbed "Notpla" (not plastic), also has other applications beyond holding liquids. It can be used to replace the plastic lining in cardboard takeout boxes, for example. And the startup is working on additional materials to replace other types of ubiquitous plastic packaging, like the netting that encases garlic and onions, and the sachets that hold nails and screws.
Edible water bubbles may be the future of drinks at sporting events and festivals.
Open Questions
One hurdle is that the pods are not very hardy, so while they work fine to hand out along a marathon route, they wouldn't really be viable for a hiker to throw in her backpack. Another issue concerns the retail market: to be stable on a shelf, they'd have to be protected from all that handling, which brings us back to the problem the engineers tried to solve in the first place -- disposable packaging.
So while Skipping Rocks may not achieve their ultimate goal of ridding the world of plastic waste, a little progress can still go a long way. If edible water bubbles are the future of drinks at sporting events and festivals, the environment will certainly benefit from their presence -- and absence.