U.S. System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of HHS

Since the launch of the Human Genome Project, genetic testing has been adopted increasingly into standard practice for diagnosing and managing disease, expanding on its roles in predicting the risk of future disease and informing decisions about life planning and behavior change.

Since the launch of the Human Genome Project, genetic testing has been adopted increasingly into standard practice for diagnosing and managing disease, expanding on its roles in predicting the risk of future disease and informing decisions about life planning and behavior change. Today, genetic tests use combinations of biochemical, cytogenetic, and molecular methods to analyze deoxyribonucleic acid (DNA), ribonucleic acid (RNA), chromosomes, proteins, and selected metabolites. Advances in genetics research are enabling improved prevention, treatment and disease management for common chronic conditions such as cancer, heart disease, and diabetes.

As genetic testing technology is integrated into health care, increasingly detailed information about individual and population genetic variations becomes available to patients and providers. More and more, health professionals are turning to genetic testing to assess the risk of disease in individuals, families, and populations and using this information to guide healthcare decisions. Yet availability of this information requires significant support for efforts to understand its validity, interpretation, and utility in clinical and personal decisionmaking. Scientific and technological advances in genetic testing present certain challenges to existing frameworks for regulation and oversight. It is critical to anticipate and adapt to the impacts of these advances on individual health care and public health.

The significance of the information that can result from genetic tests, their expanded use of genetic testing in clinical practice and public health, and the pace and extent of technological change in the ways testing is performed, have prompted efforts to examine the current systems of oversight and regulation of genetic tests and test results. The Secretary’s Advisory Committee for Genetics, Health, and Society (SACGHS) first identified oversight of genetic tests as a priority area in 2004. After several years of monitoring the issue, SACGHS began a concentrated effort in 2006 to assess the various systems of oversight that play a role in genetic testing. Like SACGT, the Committee’s overarching concern was the adequacy of the oversight system and whether there were gaps in it that could lead to harms in public health. In March 2007, HHS launched the Personalized Health Care (PHC) Initiative to advance the integration of genomic technologies that are capable of tailoring treatment and prevention strategies to each patient’s unique genetic characteristics and individual needs into general health care.

MN Health Department Yanks Baby DNA Rule to Avoid Judge’s Parent Consent Requirements

Minneapolis/Saint Paul The Minnesota Department of Health has suddenly and quietly withdrawn the newborn genetic screening rule which was set to be rolled out at the end of this month, says Citizens’ Council on Health Care (CCHC). “Clearly, the Minnesota Department of Health is not interested in protecting the genetic privacy and property rights of its newest citizens and their families. Instead they hope to use the legislative process to maintain their illegal ownership of baby DNA,” says Twila Brase, president of CCHC.

After CCHC forced the Department to hold a public hearing on the proposed newborn genetic screening rule on January 23, 2007, administrative law judge Barbara Neilsen ruled that portions of the proposed rule had “defects” and required specific changes, including:

  • Against the Department’s written wishes, Judge Neilsen required that parents of newborns be given a Tennessen Warning as requested by CCHC at the public hearing. The Warning, which is required for most data collection by government agencies, would fully inform parents of state government’s involvement in the testing program, the parent’s right to refuse government collection of DNA and genetic data, and how the data would be used and who could access the data if the parents permitted their baby to be tested for a list of genetic conditions.
  • The judge also required explicit opt-in parent consent for the retention of newborn blood and DNA, and for dissemination of blood and genetic information to genetic researchers. Countering the Department’s executive decision ten years ago to begin retaining and disseminating newborn blood without parent knowledge or consent, Judge Neilsen specifically stated that Minnesota law does not authorize such retention and dissemination, and in fact such activities now specifically violate the 2006 Minnesota genetic privacy law.

In July, Commissioner Dianne Mandernach appealed the ruling to the Chief Administrative Law Judge, Raymond R. Krause. The appeal was denied.

According to a Department letter tucked away on the health department’s website—no press release was issued—the Commissioner is now withdrawing the rule to “seek legislative guidance on storage and use of blood spots.”

Ms. Brase provides the following statements:

“The health department has cleverly avoided getting specific consent from parents of newborn babies. They’ve avoided fully informing parents about what’s happening to their children. They’ve withdrawn the rule in hopes of using the political process to sanction 10 years of illegal blood retention and genetic research, and specifically to get approval for state government ownership of the DNA of newborn citizens.

“The department’s decision strips the judge’s genetic privacy and DNA property protections from newborn babies and their families. The Department is clearly disregarding the privacy and property rights of citizens in hopes of eventually dismissing them through the legislative process.

“Obviously these DNA samples have great value, but they belong to parents and their children, and not the State of Minnesota,” Brase adds.

“We again call on the Governor to make the Department follow the rule of law.

“We call on the Governor to protect the genetic privacy and property rights of parents and children by dissembling the health department’s warehouse of DNA wrongly taken from children and their parents, and by requiring the Department to get explicit fully informed consent from parents for newborn genetic testing.

“Minnesota’s children and parents are waiting for the Governor to protect their legal rights.”

Key Documents:

MDH Letter to Judge Krause, August 29, 2007

CCHC’s Letter to Governor Pawlenty, July 24, 2007

CCHC’s Letter to Commissioner Dianne Mandernach, July 12, 2007

Chief ALJ Raymond R. Krause’s Reconsideration Order, July 3, 2007

MDH Request for Reconsideration, June 27, 2007

The ALJ Report (ALJ Barbara Neilsen), March 27, 2007

CCHC Testimony/Submitted Comments to ALJ, January 23/31, 2007:

CCHC Attachments to Testimony, January 31, 2007

Office of Administrative Hearing Newborn Screening Rule including all letters from the public

Found on the Web, With DNA: a Boy’s Father

Like many children whose mothers used an anonymous sperm donor, the 15-year-old boy longed for any shred of information about his biological father. But, uniquely, this resourceful teenager decided to try exploiting the latest in genetic technology and the sleuthing powers of the Internet in his quest.

By submitting a DNA sample to a commercial genetic database service designed to help people draw their family tree, the youth found a crucial clue that quickly enabled him to track down his long-sought parent.

“I was stunned,” said Wendy Kramer, whose online registry for children trying to find anonymous donors of sperm or egg helped lead the teenager to his father. “This had never been done before. No one knew you could get a DNA test and find your donor.”

While welcomed by advocates of children trying to locate anonymous donors, the case — apparently the first of its kind — has raised alarm among sperm banks and some medical ethicists. They are concerned it might start a trend that could violate the privacy of thousands of sperm donors and discourage future ones.

The case has also underscored how the growing number of genetic databases being established by governments, law enforcement agencies, private companies and research organizations could be used in unintended ways, potentially invading personal privacy and raising a thicket of social, ethical and legal questions.

“When you create these databases, you’re creating something that has a lot of power — far beyond what they were originally designed for,” said David M.J. Lazer, who studies the legal implications of genetic databases at Harvard University’s John F. Kennedy School of Government. “This seems like one of those scenarios.”

The database involved in the sperm donor case was set up by Family Tree DNA of Houston, a private company that has accumulated more than 45,000 DNA samples. For a fee, clients hoping to learn more about their heritage can have their DNA tested to see if it matches anyone in the database.

“We provide services for genealogists. That’s what we do,” company spokesman Max Blankfeld said. “We really didn’t have anything like this in mind.”

In this case, the teenager scraped some cells off the inside of his cheek last year and sent in the sample with $296 to see if his Y chromosome, which is passed down from father to son, matched anyone on file.

“At first he just wanted to get a little more information about his paternal side, like countries or origin. That kind of thing helps people who want to know: ‘Where am I from culturally? Where are my people from?’ Any bit of information is so welcomed,” Kramer said.

The youth has declined to be identified, revealing just the outlines of his case through Kramer’s registry to protect the identity of his newfound biological father. The case was first reported by the British magazine New Scientist.

About nine months after submitting his sample and agreeing to be contacted by other clients, the U.S. youth heard from two men with Y chromosomes that closely matched his, Kramer said. Neither man knew the other, but the analysis indicated there was about a 50 percent chance that all three had the same father, grandfather or great-grandfather, Kramer said. The men also had similar last names, spelled differently.

Because the youth’s mother had obtained the donor’s date of birth and birthplace from the sperm bank, he paid another online service, OmniTrace.com, to buy the name of every person born there on the same day, Kramer said. One man with the same last name appeared on the list, and within 10 days the youth contacted him, said Kramer, who declined to reveal details about the donor’s reaction.

“I think this kid would love to come out with his story, but for the time being those are the wishes of the donor,” Kramer said.

Since word of the case emerged, several other offspring registered on Kramer’s site,http://www.donorsiblingregistry.com/ , have clicked the link to the Family Tree DNA site (http://www.familytreedna.org/ ) in hopes of locating their biological father, she said.

“Given this case, more people will be putting their DNA in the pool so that potential connections can be made,” Kramer said. “Not everyone who puts their DNA in is going to find their biological father, but now we’ve seen this as a distinct possibility. The DNA databases are just going to grow and grow, and this is going to be more and more common.”

That scenario is likely to concern thousands of men who have donated sperm anonymously — often college students or other young men who saw it as an easy way to make money — according to sperm bank officials and ethicists. There are no reliable estimates of the number of Americans who have been born using donated sperm, but it could number in the hundreds of thousands.

“A fair number will be quite perturbed,” said R. Alta Charo, a University of Wisconsin bioethicist. “They well may be wondering, ‘Am I next?’ ”

Several experts said the relatively small number of people whose DNA is on file means the approach remains a long shot.

“The sperm bank involved in this case disclosed a lot more information than we do,” said William Jaeger of the Genetics and IVF Institute of Fairfax, one of the nation’s largest sperm banks. “In cases where the donor does not want to be identified, we do everything we can to protect them.”

Nevertheless, Jaeger and officials at several other of the nation’s largest sperm banks said the development is disturbing.

“Protecting the identify of our donors is paramount for us,” Jaeger said. “It would become a problem if it became common. It would really reduce the number of donors available, and I think you would be doing a disservice to people who want to use sperm donors.”

Many sperm banks offer donors the option to donate without anonymity and allow recipients to chose those donors. But those who opt to remain anonymous should be protected, officials said.

“I think it’s unethical. It’s an invasion of the donor’s privacy and a breach of contract,” said Cappy M. Rothman of the California Cryobank of Los Angeles, another large sperm bank. “If we were to expose our donors to being known, we would have many fewer donors.”

Some ethicists said the rights of offspring outweigh those of donors.

“I have no sympathy for someone who wants to have a child but doesn’t want the child to find out who their father is,” said George Annas of Boston University. “If you’re worried about it, you shouldn’t be selling your sperm.”

Other ethicists said the case illustrates the need to find ways to balance both interests.

“The overall issue is the importance of some offspring of donors to learn about their biologic parentage, which is a strong impulse in some children and needs to be taken seriously, with ways to accommodate that that are respectful of the privacy of the donors,” said John A. Robertson of the University of Texas School of Law.

“At the very least, we may now need to inform donors that we may no longer have a foolproof way to protect them,” Robertson said. “If the system is as porous as this case indicates, then at least we need to inform them that someone may track them down.”

Moreover, the case illustrates that when people put their DNA on a database, it provides information about more than themselves, several experts said.

“DNA is the ultimate identifier,” said Kathy Hudson, director of the Genetics and Public Policy Center at Johns Hopkins University. “I don’t know to what extent these databanks are taking their responsibility seriously to make sure people are aware of the possibility of these unintended disclosures.”

Only felons should lose DNA privacy

In November voters passed Proposition 69, requiring all felons to submit DNA to a statewide database. Two months later, Los Angeles County sheriff’s deputies arrested a suspect in a 2-1/2-year-old murder case thanks to that law and the database it expanded.
Detectives had turned up no major leads in the August 2001 kidnap and stabbing death of Christina Burmeister of Cerritos, a 20-year-old student at Cal Poly Pomona.
Burmeister set out for a sorority event at a Pomona fraternity house. Her body was found the next morning inside her pickup truck on a state Highway 39 turnout in San Gabriel Canyon.
Authorities found a discarded cigar butt with her body, but it wasn’t until the passage of Proposition 69 that the piece of evidence yielded a breakthrough.
Deputies arrested James Winslow Dixon Jr., 32, on Jan. 14, but withheld information about the arrest until Monday because they were seeking at least one more suspect in Burmeister’s murder. The state had held a DNA profile from Dixon, described as a former Monrovia gang member, since he was released from prison in 1993.
Authorities were unsure then whether Dixon met the criteria for offenders who should go into the database. But Proposition 69’s passage cleared that up by making it mandatory that all convicted felons’ DNA go into the database. Dixon’s DNA was entered and it matched DNA taken from the cigar butt found in Burmeister’s vehicle.
Prop. 69 worked exactly as envisioned in this case, allowing authorities to crack a crime that had so far proved unsolvable. We applaud that aspect of the law, and the work of law enforcement authorities in implementing it.
But the law has an Orwellian flaw.
Unfortunately, the law doesn’t stop at convicted felons. It mandates that, by 2009, all adults and juveniles who are arrested on a felony charge not just those who have been convicted will be sampled and placed in the “all-felon’ database.
That raises major invasion-of- privacy issues.
We have no objections to taking the fingerprints of anyone arrested for a crime, because fingerprints are not useful for anything besides identification they tell nothing else about the person.
That’s not so with DNA, which holds a person’s complete genetic profile. That sort of information could have huge implications for a person’s medical insurability, and no doubt for many other aspects of life in the future that we haven’t imagined yet.
We consider it an unreasonable search and seizure, a violation of our constitutional personal protections, for an innocent person to have to yield that information. And since Americans are innocent until proven guilty, they should not give up the right to DNA privacy unless and until convicted of a felony.
That database of criminals is no place for innocent people.