Cost will determine our future: a world without genetic conditions
Carrier screening and IVF with PGT-M saves money compared to lifetime cost of someone with a genetic condition, so the rationale is to prevent not treat.
I still think about this webinar, despite it being years since I listened to it: Will it be easier to cure sickle cell disease through gene therapy than prevent the disease through pre-implantation genetic testing for the selection of unaffected embryos?.
One of the well-educated doctors shared their research on costs associated with caring for someone with sickle cell disease and the costs associated with pursuing in vitro fertilization (IVF) with preimplantation genetic testing (PGT-M) to prevent the condition. They concluded that IVF with PGT-M is the predominant treatment option.
Two things struck me about this part of the webinar:
Usually, reproductive autonomy and the psychosocial benefits or limitations of treatment are the focal point of patient discussion, not economics - at least in the genetic counseling session.
Prevention being seen as a treatment for a condition.
But as I sit here with my own medical bills rising, I wonder if healthcare providers are diving into the discussion of the associated costs of raising a kiddo with sickle cell disease against going through the time intensive and costly option of PGT-M.
Australia has also taken the time to evaluate carrier screening’s economic impact, and ELSI has an entire section on the ethics and economies of gene therapies for rare disease.
Cost is one consideration made in this webinar, but even if the argument is that this is the predominant option, the speakers investigate how well this option, or even carrier status, is known in the population.
A survey presented was of 263 university students who self-identified as African American/Black and were asked if they knew if they had sickle cell trait. 52% did not know or weren’t sure of their status, and 44% did not wish to be informed of their status.
There are two posited explanations given during the webinar for why the survey participants may not want to know this information. The first explanation given was medical distrust brought on by the events at Tuskegee and lack of consent by Henrietta Lacks. The other was due to the possibility of being discriminated against for having the trait, such as in military careers or other employment. GINA has helped with some concerns for discrimination but not all.
I wonder if a third explanation is possible. Could it be that people don’t want to know this information because there’s not a reasonable option for them if they were identified as carriers? Options could be not partnering with someone who is also a carrier, utilize donor egg or sperm, preimplantation genetic testing, or testing during pregnancy and be faced with possible termination or adoption. All of these have their challenges and many options are heavily focused on medical intervention. Going to the doctor is expensive, inconvenient, and can be uncomfortable for many individuals.
The webinar focused on IVF with PGT-M as a dominant treatment option for sickle cell disease, but it is not a reasonable treatment option for many. It can be traumatic. The cost can put someone in debt. It may be logistically challenging.
Could the dominant treatment option be the approach taken by the Jewish population through mainstreaming carrier screening for individuals in their community? Here’s my pipe dream coming back up when it is normalized to have carrier screening earlier in life. If screening was available during high school health class, we can know who is also a carrier of the same condition and possibly avoid partnering with that person or know in advance if the other above options will be your plan to family building. Certain jobs can be taken to ensure proper insurance coverage and even locating to certain regions to prepare in advance.
How far off are we now from this idea given the introduction of larger gene panels for newborn screening, where carrier status could theoretically be available to those tested. Or the current reality that even now sickle cell trait status might be known for some based on their newborn screening.
If prevention is the goal, then knowing this information as early as possible - to potentially avoid partnering with another carrier or to save for other options - would be the best way to focus on this goal.
But is prevention the goal? By reducing the number of individuals with a condition, would that create fewer resources dedicated to its cure and treatment? Does everyone share the idea that medical intervention is the best approach or do people prefer a more natural approach to reproduction?
There are so many points this one-hour webinar brought up. It also makes me think about where carrier screening will take us, as I wrote about one scenario in an earlier Substack. What does everyone else think?