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.
Today’s Focus on STEM Education Is Missing A Crucial Point
I once saw a fascinating TED talk on 3D printing. As I watched the presenter discuss the custom fabrication, not of plastic gears or figurines, but of living, implantable kidneys, I thought I was finally living in the world of Star Trek, and I experienced a flush of that eager, expectant enthusiasm I felt as a child looking toward the future. I looked at my current career and felt a rejuvenation of my commitment to teach young people the power of science.
The well-rounded education of human beings needs to include lessons learned both from a study of the physical world, and from a study of humanity.
Whether we are teachers or not, those of us who admire technology and innovation, and who wish to support progress, usually embrace the importance of educating the next generation of scientists and inventors. Growing a healthy technological civilization takes a lot of work, skill, and wisdom, and its continued health depends on future generations of competent thinkers. Thus, we may find it encouraging that there is currently an abundance of interest in STEM– the common acronym for the study of science, technology, engineering, and math.
But education is as challenging an endeavor as science itself. Educating youth--if we want to do it right--requires as much thought, work, and expertise as discovering a cure or pioneering regenerative medicine. Before we give our money, time, or support to any particular school or policy, let's give some thought to the details of the educational process.
A Well-Balanced Diet
For one thing, STEM education cannot stand in isolation. The well-rounded education of human beings needs to include lessons learned both from a study of the physical world, and from a study of humanity. This is especially true for the basic education of children, but it is true even for college students. And even for those in science and engineering, there are important lessons to be learned from the study of history, literature, and art.
Scientists have their own emotions and values, and also need financial support. The fruits of their labor ultimately benefit other people. How are we all to function together in our division-of-labor society, without some knowledge of the way societies work? How are we to fully thrive and enjoy life, without some understanding of ourselves, our motives, our moral values, and our relationships to others? STEM education needs the humanities as a partner. That flourishing civilization we dream of requires both technical competence and informed life-choices.
Think for Yourself (Even in Science)
Perhaps even more important than what is taught, is the subject of how things are taught. We want our children to learn the skill of thinking independently, but even in the sciences, we often fail completely to demonstrate how. Instead of teaching science as a thinking process, we indoctrinate, using the grand discoveries of the great scientists as our sacred texts. But consider the words of Isaac Newton himself, regarding rote learning:
A Vulgar Mechanick can practice what he has been taught or seen done, but if he is in an error he knows not how to find it out and correct it, and if you put him out of his road he is at a stand. Whereas he that is able to reason nimbly and judiciously about figure, force, and motion, is never at rest till he gets over every rub.
What's the point of all this formal schooling in the first place? Is it, as many of the proponents of STEM education might argue, to train students for a "good" career?
If our goal is to help students "reason nimbly" about the world around them, as the great scientists themselves did, are we succeeding? When we "teach" middle school students about DNA or cellular respiration by presenting as our only supporting evidence cartoon pictures, are we showing students a process of discovery based on evidence and hard work? Or are we just training them to memorize and repeat what the authorities say?
A useful education needs to give students the skill of following a line of reasoning, of asking rational questions, and of chewing things through in their minds--even if we regard the material as beyond question. Besides feeding students a well-balanced diet of knowledge, healthy schooling needs to teach them to digest this information thoroughly.
Thinking Training
Now step back for a moment and think about the purpose of education. What's the point of all this formal schooling in the first place? Is it, as many of the proponents of STEM education might argue, to train students for a "good" career? That view may have some validity for young adults, who are beginning to choose electives in favored subjects, and have started to choose a direction for their career.
But for the basic education of children, this way of thinking is presumptuous and disastrous. I would argue that the central purpose of a basic education is not to teach children how to perform this or that particular skill, but simply to teach them to think clearly. We should not be aiming to provide job training, but thinking training. We should be helping children learn how to "reason nimbly" about the world around them, and breathing life into their thinking processes, by which they will grapple with the events and circumstances of their lives.
So as we admire innovation, dream of a wonderful future, and attempt to nurture the next generation of scientists and engineers, instead of obsessing over STEM education, let us focus on rational education. Let's worry about showing children how to think--about all the important things in life. Let's give them the basic facts of human existence -- physical and humanitarian -- and show them how to fluently and logically understand them.
Some students will become the next generation of creators, and some will follow other careers, but together -- if they are educated properly -- they will continue to grow their inheritance, and to keep our civilization healthy and flourishing, in body and in mind.
Do New Tools Need New Ethics?
Scarcely a week goes by without the announcement of another breakthrough owing to advancing biotechnology. Recent examples include the use of gene editing tools to successfully alter human embryos or clone monkeys; new immunotherapy-based treatments offering longer lives or even potential cures for previously deadly cancers; and the creation of genetically altered mosquitos using "gene drives" to quickly introduce changes into the population in an ecosystem and alter the capacity to carry disease.
The environment for conducting science is dramatically different today than it was in the 1970s, 80s, or even the early 2000s.
Each of these examples puts pressure on current policy guidelines and approaches, some existing since the late 1970s, which were created to help guide the introduction of controversial new life sciences technologies. But do the policies that made sense decades ago continue to make sense today, or do the tools created during different eras in science demand new ethics guidelines and policies?
Advances in biotechnology aren't new of course, and in fact have been the hallmark of science since the creation of the modern U.S. National Institutes of Health in the 1940s and similar government agencies elsewhere. Funding agencies focused on health sciences research with the hope of creating breakthroughs in human health, and along the way, basic science discoveries led to the creation of new scientific tools that offered the ability to approach life, death, and disease in fundamentally new ways.
For example, take the discovery in the 1970s of the "chemical scissors" in living cells called restriction enzymes, which could be controlled and used to introduce cuts at predictable locations in a strand of DNA. This led to the creation of tools that for the first time allowed for genetic modification of any organism with DNA, which meant bacteria, plants, animals, and even humans could in theory have harmful mutations repaired, but also that changes could be made to alter or even add genetic traits, with potentially ominous implications.
The scientists involved in that early research convened a small conference to discuss not only the science, but how to responsibly control its potential uses and their implications. The meeting became known as the Asilomar Conference for the meeting center where it was held, and is often noted as the prime example of the scientific community policing itself. While the Asilomar recommendations were not sufficient from a policy standpoint, they offered a blueprint on which policies could be based and presented a model of the scientific community setting responsible controls for itself.
But the environment for conducting science changed over the succeeding decades and it is dramatically different today than it was in the 1970s, 80s, or even the early 2000s. The regime for oversight and regulation that has provided controls for the introduction of so-called "gene therapy" in humans starting in the mid-1970s is beginning to show signs of fraying. The vast majority of such research was performed in the U.S., U.K., and Europe, where policies were largely harmonized. But as the tools for manipulating humans at the molecular level advanced, they also became more reliable and more precise, as well as cheaper and easier to use—think CRISPR—and therefore more accessible to more people in many more countries, many without clear oversight or policies laying out responsible controls.
There is no precedent for global-scale science policy, though that is exactly what this moment seems to demand.
As if to make the point through news headlines, scientists in China announced in 2017 that they had attempted to perform gene editing on in vitro human embryos to repair an inherited mutation for beta thalassemia--research that would not be permitted in the U.S. and most European countries and at the time was also banned in the U.K. Similarly, specialists from a reproductive medicine clinic in the U.S. announced in 2016 that they had performed a highly controversial reproductive technology by which DNA from two women is combined (so-called "three parent babies"), in a satellite clinic they had opened in Mexico to avoid existing prohibitions on the technique passed by the U.S. Congress in 2015.
In both cases, genetic changes were introduced into human embryos that if successful would lead to the birth of a child with genetically modified germline cells—the sperm in boys or eggs in girls—with those genetic changes passed on to all future generations of related offspring. Those are just two very recent examples, and it doesn't require much imagination to predict the list of controversial possible applications of advancing biotechnologies: attempts at genetic augmentation or even cloning in humans, and alterations of the natural environment with genetically engineered mosquitoes or other insects in areas with endemic disease. In fact, as soon as this month, scientists in Africa may release genetically modified mosquitoes for the first time.
The technical barriers are falling at a dramatic pace, but policy hasn't kept up, both in terms of what controls make sense and how to address what is an increasingly global challenge. There is no precedent for global-scale science policy, though that is exactly what this moment seems to demand. Mechanisms for policy at global scale are limited–-think UN declarations, signatory countries, and sometimes international treaties, but all are slow, cumbersome and have limited track records of success.
But not all the news is bad. There are ongoing efforts at international discussion, such as an international summit on human genome editing convened in 2015 by the National Academies of Sciences and Medicine (U.S.), Royal Academy (U.K.), and Chinese Academy of Sciences (China), a follow-on international consensus committee whose report was issued in 2017, and an upcoming 2nd international summit in Hong Kong in November this year.
These efforts need to continue to focus less on common regulatory policies, which will be elusive if not impossible to create and implement, but on common ground for the principles that ought to guide country-level rules. Such principles might include those from the list proposed by the international consensus committee, including transparency, due care, responsible science adhering to professional norms, promoting wellbeing of those affected, and transnational cooperation. Work to create a set of shared norms is ongoing and worth continued effort as the relevant stakeholders attempt to navigate what can only be called a brave new world.