Carrier screening for ALL!
The American College of OB/GYN (ACOG) is one organization that physicians and health professionals go to to determine the most up to date recommendations and guidelines on caring for women during their reproductive years. Since technology is ever improving and our knowledge on conditions grows, the medical profession needs a standard of care and workgroups to constantly evaluate practices as well as a way to stay current and integrate the latest innovations. Recently, a patient’s male partner questioned the current practices of offering carrier screening which is as follows:
"Information about genetic carrier screening should be provided to every pregnant woman. After counseling, a patient may decline any of all screening. Carrier screening and counseling ideally should be performed before pregnancy."
The second statement of ideally being performed before pregnancy is up for interpretation as to who the carrier screening should be offered to, yet the first statement is abundantly clear that it is offered to every pregnant woman. Not every man that assisted in that pregnancy. The patient’s partner was upset he was never offered carrier screening in any of his doctor’s appointments, and only until his pregnant wife was found to be a carrier, was he offered testing. He had wished he had this testing done years ago, so they would not be in this state of anxiety of whether he was also a carrier of the same condition.
It is more likely a pregnant woman would seek out a doctor to help manage her pregnancy as well as she may be more open to the idea of carrier screening than would a man or even a non-pregnant woman given she is actively thinking about the current pregnancy. Sometimes, the men who assisted in the pregnant are not able to attend those doctor appointments and may not have primary care physicians or health insurance. Logistics and practicality are always the bottom line - when would men be offered carrier screening? How could carrier screening of a male or even before pregnancy for both men and women realistically occur?
One possible option could be to offer carrier screening at the time of annual physical checkups for both men and women. It could be thought of as a right of passage from childhood to adulthood and schools could offer this testing to the students turning 18 years old.
Not only are men usually only offered carrier screening once their female partner is found to be a carrier, it is also yet other responsibility added to a woman regarding fertility. Usually, she is the first to know her carrier status and the implications. She is then the person to inform her partner that in order to understand the risks to their current pregnancy, he would need to undergo testing. If it was offered to all sexes, then this could equalize the responsibility.
How can we publicize carrier screening as both a female and male test that is done before conceiving a pregnancy?
Resources:
https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2017/03/carrier-screening-for-genetic-conditions
* This blog constitutes general information about genetic testing and medical screening. This blog does not offer or provide medical advice or diagnosis, and nothing in this blog/webinar should be construed as medical advice or diagnosis. Do not rely on the information in this blog/webinar to make medical management decisions. Please consult with a medical professional before making those decisions. Do not delay in seeking professional medical advice if you think you have a medical concern. Do not disregard professional medical advice based on any information received in this blog.
