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.
Gene Editing of Embryos Is Both Ethical and Prudent
BIG QUESTION OF THE MONTH: Should we use CRISPR, the new technique that enables precise DNA editing, to change the genes of human embryos to eradicate disease--or even to enhance desirable traits? LeapsMag invited three leading experts to weigh in.
Now that researchers around the world have begun to edit the genes of human embryos with CRISPR, the ethical debate has become more timely than ever: Should this kind of research be on the table or categorically ruled out?
All of us need gene editing to be pursued, and if possible, made safe enough to use in humans. Not only to pave the way for effective procedures on adults, but more importantly, to keep open the possibility of using gene editing to protect embryos from susceptibility to major diseases and to prevent other debilitating genetic conditions from being passed on through them to future generations.
Objections to gene editing in embryos rest on three fallacious arguments:
- Gene editing is wrong because it affects future generations, the argument being that the human germline is sacred and inviolable.
- It constitutes an unknown and therefore unacceptable risk to future generations.
- The inability to obtain the consent of those future generations means we must not use gene editing.
We should be clear that there is no precautionary approach; just as justice delayed is justice denied, so therapy delayed is therapy denied.
Regarding the first point, many objections to germline interventions emphasize that such interventions are objectionable in that they affect "generations down the line". But this is true, not only of all assisted reproductive technologies, but of all reproduction of any kind.
Sexual reproduction would never have been licensed by regulators
As for the second point, every year an estimated 7.9 million children - 6% of total births worldwide - are born with a serious birth defect of genetic or partially genetic origin. Had sexual reproduction been invented by scientists rather than resulting from our evolved biology, it would never have been licensed by regulators - far too inefficient and dangerous!
If the appropriate benchmark for permissible risk of harm to future generations is sexual reproduction, other germline-changing techniques would need to demonstrate severe foreseeable dangers to fail.
Raising the third point in his statement on gene-editing in human embryos, Francis S. Collins, director of the National Institutes of Health, stated: "The strong arguments against engaging in this activity remain … These include the serious and unquantifiable safety issues, ethical issues presented by altering the germline in a way that affects the next generation without their consent."
"Serious and unquantifiable" safety issues feature in all new technologies but consent is simply irrelevant for the simple and sufficient reason that there are no relevant people in existence capable of either giving or withholding consent to these sorts of changes in their own germline.
We all have to make decisions for future people without considering their inevitably absent consent. All would-be/might-be parents make numerous decisions about issues that might affect their future children. They do this all the time without thinking about consent of the children.
George Bernard Shaw and Isadora Duncan were possibly apocryphal exceptions. She, apparently, said to him something like: "Why don't we have a child? With my looks and your brains it cannot fail," and received Shaw's more rational assessment: "Yes, but what if it has my looks and your brains?"
If there is a discernible duty here, it is surely to try to create the best possible child, a child who will be the healthiest, most intelligent and most resilient to disease reasonably possible given the parents' other priorities. This is why we educate and vaccinate our children and give them a good diet if we can. That is what it is to act for the best, all things considered. This we have moral reasons to do; but they are not necessarily overriding reasons.
"There is no morally significant line between therapy and enhancement."
There is no morally significant line that can be drawn between therapy and enhancement. As I write these words in my London apartment, I am bathed in synthetic sunshine, one of the oldest and most amazing enhancement technologies. Before its invention, our ancestors had to rest or hide in the dark. With the advent of synthetic sunshine--firelight, candlelight, lamplight and electric light--we could work and play as long as we wished.Steven Hawking initially predicted that we might have about 7.6 billion years to go before the Earth gives up on us; he recently revised his position in relation to the Earth's continuing habitability as opposed to its physical survival: "We must also continue to go into space for the future of humanity," he said recently. "I don't think we will survive another thousand years without escaping beyond our fragile planet."
We will at some point have to escape both beyond our fragile planet and our fragile nature. One way to enhance our capacity to do both these things is by improving on human nature where we can do so in ways that are "safe enough." What we all have an inescapable moral duty to do is to continue with scientific investigation of gene editing techniques to the point at which we can make a rational choice. We must certainly not stop now.
At the end of a 2015 summit where I spoke about this issue, the renowned Harvard geneticist George Church noted that gene editing "opens up the possibility of not just transplantation from pigs to humans but the whole idea that a pig organ is perfectible…Gene editing could ensure the organs are very clean, available on demand and healthy, so they could be superior to human donor organs."
"We know for sure that in the future there will be no more human beings and no more planet Earth."
We know for sure that in the future there will be no more human beings and no more planet Earth. Either we will have been wiped out by our own foolishness or by brute forces of nature, or we will have further evolved by a process more rational and much quicker than Darwinian evolution--a process I described in my book Enhancing Evolution. Even more certain is that there will be no more planet Earth. Our sun will die, and with it, all possibility of life on this planet.As I say in my recent book How to Be Good:
By the time this happens, we may hope that our better evolved successors will have developed the science and the technology needed to survive and to enable us (them) to find and colonize another planet or perhaps even to build another planet; and in the meanwhile, to cope better with the problems presented by living on this planet.
Editor's Note: Check out the viewpoints expressing condemnation and mild curiosity.
Would You Want to Know a Decade Early If You Were Getting Alzheimer's?
Editor's Note: A team of researchers in Italy recently used artificial intelligence and machine learning to diagnose Alzheimer's disease on a brain scan an entire decade before symptoms show up in the patient. While some people argue that early detection is critical, others believe the knowledge would do more harm than good. LeapsMag invited contributors with opposite opinions to share their perspectives.
I first realized something was wrong with my dad when I came home for Thanksgiving 20 years ago.
I hadn't seen my family for more than a year after moving from New York to California. My father was meticulous, a multi-shower a day man, a regular Beau Brummell. He was never officially diagnosed with dementia, but it was easy to figure out after he stopped leaving the house, stopped reading, stopped being himself. My mother knew, but she never sought help. After his illness showed itself, I asked her if she considered a nursing home. "Never," she told me. "I can take care of him." And she did.
She gave herself a break once to visit me, and it was the first time she traveled separately from him since they eloped at seventeen. My brother watched my father, and it was not smooth. Dad was angry, hallucinating, and demanding his gun, which had been disposed of long ago. While Mom was visiting me in California, we played some board games. One demanded honest answers. The card read, What are you most afraid of? "Dementia," she said.
My father never saw this coming, none of us did.
Dementia ran on my mother's side. Her mother, my Nana, was senile, the popular diagnosis for older folks back then. My grandfather tried his hardest to take care of her, but she kept escaping their tidy 6th floor apartment to run away. My mother would go over every day to take care of them, but once my grandfather became ill, she took her mother into our apartment. She had two small children, Nana, and her husband in a two-bedroom flat. Nana talked to people under plates, wore tissues on her head, and tried to escape. We were on the first floor, so she could run into traffic if all eyes weren't on her. Soon, it was too much, even for my Wonder Woman mom. Nana was placed in a nursing home and died soon after.
My mother dropped dead on a NYC sidewalk two years after my father started to deteriorate. She was probably going to the store to buy milk and cigarettes. A kind stranger called 911, and a cop came to my parent's door soon after to tell my dad the news. My father cried for death, raged and ranted, then calmed down enough to come back as the dad we remembered for the week of mourning. He even ordered a Manhattan at dinner. His death came exactly a week and an hour after my mother's. He died of a broken heart. My husband cried with all his body after we left the cemetery, weeping, "Poor Buck. Poor Buck." I never saw him cry before.
Now, 18 years later, I sit here with my husband, 59 years old, as he suffers from the same hideous disease.
He is talking to someone I can't see, even laughing with him. He holds a Ph.D. in literature, taught college, had a single handicap golf game, and ate well. We never saw this coming. One day he went to type and jumbled letters came on the screen. He would show up late or early for his classes, wondering what was wrong with the students. He started running red lights. He was graciously counseled to retire, and he did, at 55. His doctor told him it was depression. The second opinion agreed. He was told to do nothing for a year, and he did. He played golf a bit, then one day he couldn't speak or think clearly. I came home from work to find him roaming the neighborhood, eyes ablaze, muttering to himself. I went on family leave. Many tests later we got the working diagnosis, but it meant nothing to him. He never reacted to the words Primary Progressive Aphasia or dementia. I was glad. If he was lucid, I knew what he would talk about doing. He told me after my dad's death that he did not want that life for himself.
I worry I may get it, too. It almost seems inescapable. Dementia has no cure, and the treatments for the symptoms are hit and miss. I thought about getting the full flight of predictive tests, but I know myself, and I scare myself into bracing for the worst. Others scare me, too, when I read their online statements about ending their lives if they learn they have it: I told my children to take me to a state where assisted suicide is legal; it's easy to overdose; I don't want to be a burden on my children. These are caregivers on social media forums. They live with the terror, eyes wide open. We have no children, but who would I burden? My sisters? My brother? Do I stay or do I go? This disease invites pandemonium. Assisted murder-suicides with caregiver spouses of those with dementia don't merit headlines, but their stories are on the sidebars. No thanks. I work on God's timeline.
There are no survivors – yet.
A diagnosis today would paralyze me and create melancholy for all who know me. I would second guess everything, I would read everything, I would cry, I would hardly live. I would be tempted to pick up that first drink after 20 plus years sober. I would even think about ending my life. It would be difficult not to consider. As a high school English teacher, I talk about suicide when I teach Hamlet. I tell the students suicide is a permanent solution to a temporary problem. Dementia isn't temporary. There are no survivors – yet.
I often think what my relatives would have done with an advance diagnosis. My grandmother was a classic worrier. She would have been beyond distraught. My father might have found that gun. My husband would have taken the right number of pills.
An advance diagnosis would paralyze me.
I appreciate the arguments for early diagnosis. Some people are made of sterner stuff. They have the mindset I lack. I admire so many who are contributing to the current conversation about dementia and are active advocates for a cure. They have found a purpose in their fate.
I don't need a test to get my ducks in a row. Loving those with dementia has prompted me to be prepared. I have a different type of bucket list: reset my priorities, slow down, be present, educate others, and make my legal plans. If and when it happens, there will be time for toast and tea and a walk along the shore. There will be time to plan for the inevitable and unenviable end. I am morbid enough to know I will recognize the purple elephant in the room. I don't want the shock and awe now. I can wait. My sisters agree. We will keep our elbows out.
Editor's Note: Consider the other side of the argument here.