The Sequence 9/12-9/18
Patenting Genes, Virtual Decision Aids in Facilitating the Reproductive Decision-making Process, Genetic Insights into Reversing Hearing Loss, Identification of a Burglar Through Genetic Database
Should we be able to patent genes?
Senator Tillis of North Carolina introduced a law that would expand patent eligibility for genetic material and challenge statutes that are in place to protect against the ability to patent genes.
This issue sounds familiar.
It should. In the last decade, major Supreme Court decisions in the Association for Molecular Pathology et al. v. Myriad Genetics and the Mayo Collaborative Services v. Prometheus Laboratories cases have ruled in favor of protecting from private companies being able to patent genes.
There are a couple of big reasons for this. The first is that people are made up of genes. By protecting against patenting genes, the law protects against patenting living, naturally occurring beings. The second is that viruses are made up of genes. By protecting against patenting viral genes, it ensures those virus gene sequences can be used by anyone to make vaccines. For example, if this newly introduced law had existed at the start of the pandemic and the SARS-CoV-2 genetic sequence was patented, the response efforts during the pandemic would have been drastically different.
How is the bill being received?
Per usual, there are supporters and critics. Senator Tillis, who introduced the bill, stated “…strong, and predictable patent rights are imperative to enable investments in the broad array of innovative technologies that are critical to the economic and global competitiveness of the United States and to its national security". Supporters, including The Biotechnology Innovation Organization (BIO), a trade association representing the biotech industry, feel the bill will bring ‘clarity’ to what is allowed to be patented and what is not. Critics, however, feel that the bill would allow for patents that could hinder the biomedical community's response to future infectious disease outbreaks.
What’s the takeaway?
The decision on whether genetic material should be allowed to be patented, and what exactly genetic material entails, will be an ongoing discussion as efforts in precision medicine and our understanding of genes continue to improve.
Use of virtual decision aids in facilitating the reproductive decision-making process
Severijns et al. studied couples at risk for having a child with a genetic disorder to understand how the use of an online decision aid helped to facilitate their reproductive decisions.
These reproductive options include no genetic testing, natural conception with prenatal genetic testing and diagnosis, or preimplantation genetic testing (the process of testing embryos after in-vitro fertilization (aka IVF) prior to fertilization in the womb in order to test for genetic mutations).
How did they study that?
Couples participated in a baseline questionnaire prior to using the online decision aid, a follow-up questionnaire directly after using the online decision aid, and then a second follow-up questionnaire two weeks later.
Using the questionnaire, the researchers were mainly looking at measurements of decisional conflict, or personal perceptions of uncertainty between choices, to understand whether the online decision aid helped to decrease uncertainty about what reproductive choices to make.
So was the online decision aid helpful?
Yes! It was mostly helpful in decreasing uncertainty for couples who had higher uncertainty in the first place. Results additionally indicated a positive impact on helping participants to feel informed and clear about personal values. It does not seem to have had an impact on the joint informed decision-making process (the process of decision-making between partners by communicating things about each other’s values and feelings).
What’s the takeaway?
Virtual decision aids are effective in supporting couples at risk of transmitting a genetic disease to their offspring in making a reproductive decision, and may be effective in helping individuals to feel informed about their own personal values.
Genetic insights into reversing hearing loss
Jimenez et al. analyzed the gene expression of hair cells undergoing regeneration in the inner ear of zebrafish in order to understand what mechanisms of gene expression are potentially involved in that process of regeneration.
What do regenerating hair cells have to do with reversing hearing loss?
Believe it or not, most other animals besides mammals are able to reverse hearing loss. Hearing loss in mammals is caused by damage to the mammalian inner ear ‘sensory epithelium’, i.e. hair cells that the ear uses as receptors to identify sound. Other animals are able to continually produce new hair cells in the inner ear throughout their lifetimes and can regenerate them in response to trauma.
How is gene expression involved?
We already know many of the genes involved in inner ear development. This study was looking at how differences in the way those genes are expressed differ in animals that can regenerate hair cells in the inner ear.
Genetic code, or DNA, is made into protein in a process called transcription. There are genetic ‘regulatory elements’ that dictate which genes actually get transcribed into proteins. Proteins are responsible for performing functions in the body, i.e. for ‘expressing’ the DNA.
So, the team at the NIH wanted to understand what those regulatory elements are in the hair cells of the inner ear in zebrafish and how they affect cell regeneration.
What did they find?
Jimenez et al. identified certain DNA regulatory elements involved in gene expression that changed some ‘supporting’ cells (pre-hair cells) into ‘progenitor’ cells (i.e. a type of cell that has the ability to generate other types of specialty cells, like hair cells).
Did we find the answer to reversing hearing loss?
Maybe! Results showed that supporting cells in the inner ear of the zebrafish may have the ability to turn into progenitor cells, which then replace depleted hair cells after injury. This whole endless cycle of cell regeneration honestly sounds like the cell regeneration process of the immortal jellyfish.
The takeaway?
The study highlighted some DNA regulatory elements involved in gene expression that allow hair cells to regenerate and repair hearing loss. Understanding these elements will provide insight on how to proceed in “reactivating” the regeneration response in mammals.
Burglar identified through use of DNA database using genetic data from rape kit
In another unexpected use of genetic databases to catch criminals, a woman sued San Francisco police for using a DNA sample taken from an old rape kit to arrest her in an unrelated burglary case. This should be reminiscent of The Golden State Killer, a serial killer identified by police after using the ancestry database GEDmatch in 2019.
What’s the story?
A woman claims that San Francisco police only identified and arrested her by matching her DNA from a burglary to her DNA from a rape kit submitted to police for investigation of a rape in 2016.
That’s concerning.
It is, because this would mean her DNA was stored in a database without her consent. Additionally, news like this may discourage victims of rape from reporting the incident to the police.
The takeaway?
There is little transparency around how and where genetic data is stored when it’s collected from the scene of a crime. Unfortunately, this includes victims just as equally as convicts. There is much to be done in the efforts to establish uniform ways of handling genetic data collected by law enforcement.