Prenatal Genetic Screening

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What is Genetic Testing?

Genetic testing is a type of medical test that identifies changes in chromosomes, genes or proteins. Gene tests look for abnormalities in DNA taken from a person’s blood, body fluids or tissues. The tests can look for large mistakes such as a gene that has a section missing or added. 

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What are different types of genetic testing?

  • Carrier screening

    • Can be done any time before pregnancy
    • Looks at family history and tests
    • Tells you whether you carry the genes for specific genetic diseases
    • Helps minimize the chance of passing on that disease
    • Plan in advance for options like in vitro fertilization (IVF) with donor eggs or sperm
  • Prenatal screening

    • Tests the fetus for specific diseases like Turner’s syndrome, down’s syndrome and many more.
    • Includes invasive testing like amniocentesis and alternative non-invasive testing.
    • Abortion may be the only option after diagnosis
  • Newborn screening

    • Checks for rate genetic, hormone-related, and metabolic conditions that can cause serious health problems
    • Provides an early start for treatments, if possible
    • Parents have very limited options as to how to handle a diagnosis
  • Prenatal screening is the most controversial out of the three and I would like to focus on that today

Take a look at this excellent video for background information

Prenatal Genetic Testing in numbers

As shown by the graphs, the number of new testing methods are increasing exponentially. And the majority of genetic testing is prenatal and involves multiple genes, meaning it is invasive.

The Big and Beautiful Question

Should we conduct prenatal genetic testing on fetuses and use that for abortions?

Bioethical Considerations for Prenatal Testing

Non-Maleficence The non-invasive tests does not harm the mother, however the invasive and more conclusive amniocentesis does. Also, if the test does come back positive for any disease, an abortion of the fetus is very likely and can be understood as harming the unborn child
Beneficence The tests may benefit the family since it will relieve them from the financial pressure they might take on should they have a disabled child. It may also help a country’s health care system. Furthermore, it may benefit humanity as a whole since it helps natural selection and eliminate the defected genes. 
Justice Not everyone can have access to genetic testing. Even though the price have decreased dramatically, it still can cost thousands of dollars. The question of distribution of resources should also be considered here.
Autonomy Does the fetus have autonomy? Should parents be forced into a prenatal test if they are carriers of specific genetic diseases?
Utility Does it generate more good to conduct prenatal genetic tests to eliminate the possibility of having a defected child than to let them be born? Which option benefits more people?

An Interview

I have been working as an intern in Cubicise Medical in Shanghai, China. It is a young company working on the pre-birth diagnosis for various genetic diseases like down’s, 13 trisomy, 18 trisomy, and more. We have been developing testing kits to be distributed to hospitals so that these tests can be done more easily. I have conducted an interview with Dr. Jin, owner and CEO of the company, on his perspective on the societal concerns and consequences of genetic testing. (The interview is in Chinese and I have not finished adding the subtitles to the video so here’s a rough transcript instead.)

Q: Hi Dr. Jin, How long have you been working in the field of genetic testing?

A: Ever since I graduated from medical school, so over 10 years now?

Q: How have prenatal genetic screening developed over these past 10 years?

A: I would say it has came a long way. People are becoming more accepting to the idea of genetic testing, especially if they are at risk themselves. We receive more than 5,000 samples every week from hospitals all over the country that does not have the capability to conduct these tests for us to do it. The cases of genetic disorders or newborns have also decreased dramatically, in China at least. The cost have also decreased. When I first started the job, the cost was way over US$10,000 per test. Now, with our own kits, we are charging hospitals less than US$100 for each patient, and it is also partially covered by insurance. I would say that it is almost available to everyone who needs it?

Q: Would you say that benefits more than it could harm?

A: Certainly. I think in the end, this is still about money. Treatments for genetic diseases like Down’s syndrome are still experimental at best, and they can cost upwards of US$5,000,000, they are also life-long, which could severely impact one’s capability to work. Most patients with genetic diseases are disabled and will likely be a burden in many ways. We should never give up on them but by reducing the numbers of new cases through genetic testing, we might be able to help not only the patients’ families but also the country’s health care system. Not to mention that if we do this on a large enough scale, we might be able to eliminate these diseases from humanity through genetics. How great would that be!

Q: Do you think it is unethical that abortions may be a result for these tests?

A: Well, abortion is a tricky question. I know about the 14-week rule in some U.S. States, but there is no such thing in China. At least for us, abortion is considered ethical and sometimes necessary. Imagine this: A mother gets pregnant and through genetic testing, knows that her child is a patient of 13 trisomy, for example. If she cannot get an abortion, she will be left with just two choices. Accept the fact that her child may die at an early age or have physical deformations, or withstand the ridiculous price for a life-long treatment. Ethics apart, it would simply be the best option for her to abort and choose options like IVF if she does want children.

Q: What do you see as the future for genetic testing?

A: It will become more popular for sure. It saves money and provides a good risk management for the parents. But rather than prenatal testing, I would suggest carrier screening instead, before marriage even. It would allow the parents to have a better understanding whether they can have a child or not. Whether a girl or a boy has greater genetic risks. It simply allows time for advance planning. They might decide not to have children, or use IVF instead. Pre-natal is almost the last option as it may cause harm to the mother, not only during these invasive testing but also during abortions. So I would say that wide-spread carrier testing will be the future.

Another perspective: G Money

Garrett ‘G-Money’ Holeve is a 25-year old mixed martial arts fighter with Down syndrome.  He has trained in MMA for five years. In August of 2013 the state of Florida issued a cease and desist order to prevent Holeve from competing in a sanctioned MMA bout.

Shortly after, Garrett and his legal team at Disability Right Florida sued the ISKA and the WFO, two of the state of Florida’s authorized sanctioning organizations. The legal battle ended in January 2015 after Holeve testified in Florida District court and gained his right to compete MMA.

At the age of 19 Garrett began his journey into Martial Arts. Garrett was given the Self Advocate of the Year award in 2015 by the National Down syndrome society.

Here is a 15-minute documentary made by the Guardian if you are interested in his story: https://www.youtube.com/watch?v=jigoobFgvBk

My Position

Personally, I believe that prenatal genetic screening is beneficial and somewhat necessary in some cases. First of all, I want to address the bioethical principles of non maleficence and beneficence. While some may say that doing the test may harm the mother, even invasive tests like amniocentesis, according to research, is a very well developed medical procedure and rarely have any accidents or does substantial damage to the mother. The fetus may be aborted after the genetic test, and that can be considered as harm to the unborn child. I do not completely agree with that. Prior to birth, the fetus is, in most part, cells and tissues of the mother. Why would an abortion differ from an Appendectomy? Access to these tests will certainly be an issue, but as this technology matures, the cost rapidly decreases as said in the interview. In the very near future, almost everyone will be able to afford testing. 

It is true that many people with genetic disorders still manage to live a great life and contribute to the world, but we must consider the pressure on our health care system generated by the disabled. While I do believe we can find a medical solution to these problems in the near future, the only option for now is conservative treatment. Current patients MUST be cared for, but it would be more beneficial if we could reduce the number of future patients. And at this time when genetic therapy is still new, prenatal genetic screening might just be the only way. Based on the concept of utility, it would also be beneficial to more people than it could harm. As said in the interview, the testing did indeed dramatically decreased the case numbers of genetic disorders for newborns.

Conclusion and Action Plan

I do support the idea of prenatal and even before that, carrier screening. I believe that this would help, not only financially but also for the greater public. I would try to spread the awareness of the importance of carrier screening in hospitals, in Obstetrics and Gynecology department perhaps. I will also continue my current internship at Cubicise with the hope of continuing lower cost for these tests to make them more accessible.

 

References:
https://mymmanews.com/fighter-with-down-syndrome-granted-right-to-fight-g-money-does-battle-july-11/
https://www.ncbi.nlm.nih.gov/pmc/?term=prenatal+genetic+testing
https://patient.info/treatment-medication/genetic-testing#nav-1
https://www.mayoclinic.org/…/in-depth/prenatal-testing/art-20045177
https://pubmed.ncbi.nlm.nih.gov/25521968

1 Comments

1 comment

  1. Jing Jing Munson

    Hi Chongyu!

    Great project! I am in abnormal psychology right now, but bioethics was one of my other top choices, and after reading your page I definitely hope I will be able to learn more about bioethics in the future.

    I am also taking a genetics class right now where we talked about trisomies and other chromosomal defects that could present challenges for expecting parents and their children, so it was super fascinating to hear you bring up different genetic diseases and use those as examples.

    I had never really thought of prenatal screening as a controversial topic in bioethics, but you clearly have proven me wrong. I really enjoyed the chart with the different bioethical considerations because I was able to learn some new vocabulary as well as how it applies to this specific topic and how the words are used in the real world.

    I personally think that prenatal screening should not be banned by any means, but I like the idea of trying to push more for carrier screenings before pregnancy first. I truly did not realize how complicated this matter was, so thank you for sharing your research!

    Awesome job!

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