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.
Shoot for the Moon: Its Surface Contains a Pot of Gold
Here's a riddle: What do the Moon, nuclear weapons, clean energy of the future, terrorism, and lung disease all have in common?
One goal of India's upcoming space probe is to locate deposits of helium-3 that are worth trillions of dollars.
The answer is helium-3, a gas that's extremely rare on Earth but 100 million times more abundant on the Moon. This past October, the Lockheed Martin corporation announced a concept for a lunar landing craft that may return humans to the Moon in the coming decade, and yesterday China successfully landed the Change-4 probe on the far side of the Moon. Landing inside the Moon's deepest crater, the Chinese achieved a first in space exploration history.
Meanwhile, later this month, India's Chandrayaan-2 space probe will also land on the lunar surface. One of its goals is to locate deposits of helium-3 that are worth trillions of dollars, because it could be a fuel for nuclear fusion energy to generate electricity or propel a rocket.
The standard way that nuclear engineers are trying to achieve sustainable fusion uses fuels that are more plentiful on Earth: deuterium and tritium. But MIT researchers have found that adding small amounts of helium-3 to the mix could make it much more efficient, and thus a viable energy source much sooner that once thought.
Even if fusion is proven practical tomorrow, any kind of nuclear energy involves long waits for power plant construction measured in decades. However, mining helium-3 could be useful now, because of its non-energy applications. A major one is its ability to detect neutrons coming from plutonium that could be used in terrorist attacks. Here's how it works: a small amount of helium-3 is contained within a forensic instrument. When a neutron hits an atom of helium-3, the reaction produces tritium, a proton, and an electrical charge, alerting investigators to the possibility that plutonium is nearby.
Ironically, as global concern about a potential for hidden nuclear material increased in the early 2000s, so did the supply of helium-3 on Earth. That's because helium-3 comes from the decay of tritium, used in thermonuclear warheads (H-bombs). Thousands of such weapons have been dismantled from U.S. and Russian arsenals, making helium-3 available for plutonium detection, research, and other applications--including in the world of healthcare.
Helium-3 can help doctors diagnose lung diseases, since it enables imaging of the lungs in real time.
Helium-3 dramatically improves the ability of doctors to image the lungs in a range of diseases including asthma, chronic obstructive pulmonary disease and emphysema, cystic fibrosis, and bronchopulmonary dysplasia, which happens particularly in premature infants. Specifically, helium-3 is useful in magnetic resonance imaging (MRI), a procedure that creates images from within the body for diagnostic purposes.
But while a standard MRI allows doctors to visualize parts of the body like the heart or brain, it's useless for seeing the lungs. Because lungs are filled with air, which is much less dense than water or fat, effectively no signals are produced that would enable imaging.
To compensate for this problem, a patient can inhale gas that is hyperpolarized –meaning enhanced with special procedures so that the magnetic resonance signals from the lungs are finally readable. This gas is safe to breathe when mixed with enough oxygen to support life. Helium-3 is one such gas that can be hyperpolarized; since it produces such a strong signal, the MRI can literally see the air inside the lungs and in all of the airways, revealing intricate details of the bronchopulmonary tree. And it can do this in real time
The capability to show anatomic details of the lungs and airways, and the ability to display functional imaging as a patient breathes, makes helium-3 MRI far better than the standard method of testing lung function. Called spirometry, this method tells physicians how the lungs function overall, but does not home in on particular areas that may be causing a problem. Plus, spirometry requires patients to follow instructions and hold their breath, so it is not great for testing young children with pulmonary disease.
In recent years, the cost of helium-3 on Earth has skyrocketed.
Over the past several years, researchers have been developing MRI for lung testing using other hyperpolarized gases. The main alternative to helium-3 is xenon-129. Over the years, researchers have learned to overcome certain disadvantages of the latter, such as its potential to put patients to sleep. Since helium-3 provides the strongest signal, though, it is still the best gas for MRI studies in many lung conditions.
But the supply of helium-3 on Earth has been decreasing in recent years, due to the declining rate of dismantling of warheads, just as the Department of Homeland Security has required more and more of the gas for neutron detection. As a result, the cost of the gas has skyrocketed. Less is available now for medical uses – unless, of course, we begin mining it on the moon.
The question is: Are the benefits worth the 239,000-mile trip?
Should Organ Donors Be Paid?
Deanna Santana had assumed that people on organ transplant lists received matches. She didn't know some died while waiting. But in May 2011, after her 17-year-old son, Scott, was killed in a car accident, she learned what a precious gift organ and tissue donation can be.
"I would estimate it cost our family about $4,000 for me to donate a kidney to a stranger."
His heart, lungs, kidneys, liver and pancreas saved five people. His corneas enabled two others to see. And his bones, connective tissues and veins helped 73 individuals.
The donation's impact had a profound effect on his mother as well. In September 2016, she agreed to donate a kidney in a paired exchange of four people making the same sacrifice for four compatible strangers.
She gave up two weeks' worth of paid vacation to recuperate and covered lodging costs for loved ones during her transplant. Eventually, she qualified for state disability for part of her leave, but the compensation was less than her salary as public education and relations manager at Sierra Donor Services, an organ procurement organization in West Sacramento, California.
"I would estimate it cost our family about $4,000 for me to donate a kidney to a stranger," says Santana, 51. Despite the monetary hardship, she "would do it again in a heartbeat."
While some contend it's exploitative to entice organ donors and their families with compensation, others maintain they should be rewarded for extending their generosity while risking complications and recovering from donation surgery. But many agree on one point: The focus should be less on paying donors and more on removing financial barriers that may discourage interested prospects from doing a good deed.
"There's significant potential risk associated with donating a kidney, some of which we're continuing to learn," says transplant surgeon Matthew Cooper, a board member of the National Kidney Foundation and co-chair of its Transplant Task Force.
Although most kidneys are removed laparoscopically, reducing hospitalization and recuperation time, complications can occur. The risks include wound and urinary tract infections, pneumonia, blood clots, injury to local nerves causing decreased sensation in the hip or thigh, acute blood loss requiring transfusion and even death, Cooper says.
"We think that donation is a cost-neutral opportunity. It, in fact, is not."
Meanwhile, from a financial standpoint, estimates have found it costs a kidney donor in the United States an average of $3,000 to navigate the entire transplant process, which may include time off from work, travel to and from the hospital, accommodations, food and child care expenses.
"We think that donation is a cost-neutral opportunity. It, in fact, is not," says Cooper, who is also Director of Kidney and Pancreas Transplantation at MedStar Georgetown Transplant Institute in Washington, D.C.
The National Organ Transplant Act of 1984 makes it illegal to sell human organs but did not prohibit payment for the donation of human plasma, sperm and egg cells.
Unlike plasma, sperm and eggs cells—which are "renewable resources"—a kidney is irreplaceable, says John J. Friedewald, a nephrologist who is medical director of kidney transplantation at Northwestern Memorial Hospital in Chicago.
Offering some sort of incentives could lessen the overall burden on donors while benefiting many more potential recipients. "We can eliminate the people waiting on the list and dying, at least for kidneys," Friedewald says.
On the other hand, incentives may influence an individual to the point that the donation is made purely for monetary gain. "It's a delicate balance," he explains, "because so much of the transplant system has been built on altruism."
That's where doing away with the "disincentives" comes into the equation. Compensating donors for the costs they endure would be a reasonable compromise, Friedewald says.
Depending on the state, living donors may deduct up to $10,000 from their adjusted gross income under the Organ Donation Tax Deduction Act for the year in which the transplantation occurs. "Human organ" applies to all or part of a liver, pancreas, kidney, intestine, lung or bone marrow. The subtracted modification may be claimed for only unreimbursed travel and lodging expenses and lost wages.
For some or many donors, the tax credit doesn't go far enough in offsetting their losses, but they often take it in stride, says Chaya Lipschutz, a Brooklyn, N.Y.-based matchmaker for donors and recipients, who launched the website KidneyMitzvah.com in 2009.
Seeking compensation for lost wages "is extremely rare" in her experience. "In all the years of doing this," she recalls, "I only had two people who donated a kidney who needed to get paid for lost wages." She finds it "pretty amazing that mostly all who contact don't ask."
Lipschutz, an Orthodox Jew, has walked in a donor's shoes. In September 2005, at age 48, she donated a kidney to a stranger after coming across an ad in a weekly Jewish newspaper. The ad stated: "Please help save a Jewish life—New Jersey mother of two in dire need of kidney—Whoever saves one life from Israel it is as if they saved an entire nation."
To make matches, Lipschutz posts in various online groups in the United States and Israel. Donors in Israel may receive "refunds" for loss of earnings, travel expenses, psychological treatment, recovery leave, and insurance. They also qualify for visits to national parks and nature reserves without entrance fees, Lipschutz says.
"There has been an attempt to figure out what would constitute fair compensation without the appearance that people are selling their organs or their loved ones' organs."
Kidneys can be procured from healthy living donors or patients who have undergone circulatory or brain death.
"The real dilemma arises with payment for living donation, which would favor poorer individuals to donate who would not necessarily do so," says Dr. Cheryl L. Kunis, a New York-based nephrologist whose practice consists primarily of kidney transplant recipients. "In addition, such payment for living donation has not demonstrated to improve a donor's socioeconomic status globally."
Living kidney donation has the highest success rate. But organs from young and previously healthy individuals who die in accidents or from overdoses, especially in the opioid epidemic, often work just as well as kidneys from cadaveric donors who succumb to trauma, Kunis says.
In these tragic circumstances, she notes that the decision to donate is often left to an individual's grieving family members when a living will isn't available. A payment toward funeral expenses, for instance, could tip their decision in favor of organ donation.
A similar scenario presents when a patient with a beating heart is on the verge of dying, and the family is unsure about consenting to organ donation, says Jonathan D. Moreno, a professor in the department of medical ethics and health policy at the University of Pennsylvania.
"There has been an attempt to figure out what would constitute fair compensation," he says, "without the appearance that people are selling their organs or their loved ones' organs."
The overarching concern remains the same: Compensating organ donors could lead to exploitation of socioeconomically disadvantaged groups. "What's likely to finally resolve" this bioethics debate, Moreno foresees, "is patient-compatible organs grown in pigs as the basic science of xenotransplants (between species) seems to be progressing."
Cooper, the transplant surgeon at Georgetown, believes more potential donors would come forward if financial barriers weren't an issue. Of the ones who end up giving a part of themselves, with or without reimbursement, "the overwhelming majority look back upon it as an extremely positive experience," he says. After all, "they're lifesavers. They should be celebrated."