The DNA Dispatch- Genetic News Updates
We are talking about current events in genetics, including Olympic sex testing, genetic privacy in insurance, and legal challenges faced by genetic testing companies. It highlights how genetic information is used, misused, and the ongoing debates around privacy and ethics.
News Story 1
What happened:
Starting with the 2028 Olympics in Los Angeles, the IOC is requiring all girls and women competing in the games to undergo mandatory testing for the SRY gene. If they refuse the test and the sharing of private medical information, these athletes will not be allowed to compete in the Olympics. Men are not required to undergo this testing.
Why it matters:
1 in 50 people have a natural variation in their sex traits and many don’t even know it. With the required SRY testing for girls and women, some of them will find out they have a sex trait variation for the first time with no support or privacy. Also- they will have test that actually does nothing to determine biological sex and is in fact unreliable and misguided.
The SRY gene is located on the Y chromosome and you may have learned in school that XX are females and XY are males. But that isn’t the full story. Biological sex is determined by many genes as well as multiple hormones, proteins, and additional factors. The SRY gene is on the Y chromosome, so if a human embryo has XY chromosomes and a functional SRY gene, then at about 6 weeks of gestation the SRY starts a chain of events that include 30+ other genes to form the testes. The testes are the organs that produce hormones, including testosterone, that leads to male development. And even after the testes form, there are other genes and hormones needed to maintain them and their function.
Changes in genes or hormones can change how testis or ovary develops which means a person can have a testis or ovary that doesn’t work properly. Some people that are XY and have a working SRY gene can have internal testes and their body actually doesn’t respond to the testosterone produce by these testes. One condition that does this is androgen insensitivity, which is not found by SRY testing alone. While testosterone plays a part in muscle mass and strength, having the SRY gene doesn’t mean someone makes and responds to testosterone.
The last time the IOC implemented SRY testing was in the 1990s. At the 1996 Olympic games in Atlanta, 7 out of 3,387 women athletes had a positive result (meaning they had the SRY gene and a Y chromosome) but were then determined to be resistant to testosterone. For the 2000 Olympic games, an expert panel presented information to the IOC that convinced them to drop the use of SRY testing for biological sex. Since that time, the IOC has used a comprehensive team of specialists in various areas like endocrinology, genetics, gynecology, psychology, and others to verify the gender of an athlete when requested by the IOC’s medical commission.
What’s next:
There is no single gene that defines sex. There is no single hormone that defines sex. And there is no single test that can define sex. The IOC is moving back to the past and using flawed science. I guess the 90s are back everywhere.
Check out these episodes to learn more:
- What are sex trait variations and how do we support intersex individuals? With Kaitlyn Brown
- Does genetics influence sex and gender? With Kim Zayhowski
News Story 2
What happened:
Australia recently passed a law that bans life insurers from using genetic test results to deny or discriminate against applicants. This means that life insurers cannot use predictive genetic data in underwriting and they cannot ask if someone’s relatives have had genetic testing. For context- the United States has no such law.
Why it matters:
When you apply for life insurance, the companies use the underwriting process to assess the risk you could bring them as an insured person under their policy. This means that your premium costs, having exclusions for coverage or being rejected for life insurance depend on how “risky” your health is. Australia recently passed country-wide law where life insurance companies cannot use genetic results in underwriting. Both Canada and the United Kingdom have similar protections, but the US does not.
The US does have a federal law called GINA or the genetic information non-discrimination act But GINA only applies to health insurance and employment. It does not apply to life insurance, disability insurance or long-term care insurance. Gina also does not apply to all types of health insurance or employment- for example military insurance such as TRICARE doesn’t fall under GINA. Some states have introduced specific bans on using genetic results in determining life insurance coverage but they may only apply to 1 specific condition and not all genetic results. In fact, Florida is the only state to pass a law prohibiting life insurance from using genetic results. I looked at some of the states I have lived in like TX, SC and GA- none of these have any protections for people’s genetic data being used in life insurance underwriting.
What’s next:
There have been reported cases of people being denied life insurance or being charged large premiums due to a condition they do not have currently have and may only be at risk for (meaning they may never actually get the condition). Make sure you know your state laws on genetic information and life insurance. In our show notes, there is a link to a resource from the University of Iowa on genetic privacy that summarizes current state laws.
Check out these episodes to learn more:
- When is rare disease not so rare? With Susanna Smith
- The DNA Dialogues Podcast episode #27: Protecting genetic information: Life insurance and GINA
News Story 3
What happened:
A genetic testing company called Tempus AI is facing multiple lawsuits alleging unauthorized collection and disclosure of genetic testing results. Tempus AI obtained these genetic test results when the company purchased Ambry Genetics, a lab that tested for genetic conditions. Tempus then used genetic data from hundreds of thousands of patients to train its AI models.
Why it matters:
Note that these are allegations in a civil complaint and nothing in this lawsuit has been proven in court. Tempus AI may have defenses that have not yet been presented at the time of this recording.
This case brings up a good discussion about how labs could potentially use genetic data for themselves or someone else and whether or not genetic data can ever really be de-identified or anonymous. As part of Tempus AI’s purchase of Ambry, Ambry was required to disclose its large database of genetic data to Tempus. The lawsuit alleges that Tempus failed to obtain customer permission to allow Ambry to disclose their genetic information as required under certain state laws. Tempus has agreements with over 70 companies including pharmaceutical companies like Pfizer and AstraZeneca as well as biotechnology firms. The lawsuit alleges that the genetic data derived from Ambry was then provided to those clients under these agreements and that this resulted in deals totaling over $1.1 billion. Tempus and Ambry state that they both only disclose de-identified data.
But can genetic data ever really be de-identified? Your genetic information is permanent and personal. And it can predict future health issues that extend to your biological relatives, such as children. While your name, DOB, diagnosis, and other identifiers specified under HIPAA can be separated from your genetic data- that doesn’t fully eliminate the chance for re-identification. A database that is anonymous can still be used with other data sets and public records, considering updated solved cold cases that have been in the news the last few years. Other ways labs attempt to anonymize data is by using it as one big group. This means that genetic data from many individuals is combined or aggregated when reported or shared as no one single sample is easily identifiable. However, there are bioinformatics tools that make it possible to re-identified from this aggregated genetic data. Finally, many companies cite following HIPAA compliancy but HIPAA is actually focused on the portability (that’s actually what the P stands for) rather than the privacy of medical information. And HIPAA alone is insufficient for protecting genetic privacy.
What’s next:
We will have to wait and see what happens with the allegations brought forth in this civil complaint. Nothing has been proven in court and no ruling has occurred at the time of this podcast recording. When you do genetic testing- make sure you understand the privacy policy of the lab performing the testing and read the fine print. You can also look for options on the lab paperwork that allow you to opt out of sharing or request the destruction of your sample and/or data. You may also have the option to download and delete your data after getting results depending on the lab or company doing the testing.
Check out these episodes to learn more:
- Should I delete my 23andMe data? With Anya Prince
- What should I know about buying a DNA test? With Andrew McCarty
And that’s a wrap on some current news in genetics. Take some time to let us know your thoughts on this new segment and fill out our listener survey- link is in the show notes. We will be back next time with an all-new interview.
