As genetic testing has become more attainable and affordable, doctors have started using prenatal testing as routine procedures. Women have the option to receive testing for disorders ranging from Down Syndrome to congenital heart defects. Some reasons for these tests are self explanatory and quite necessary. For example, congenital heart defects, which are problems with the heart\u2019s structure, can be obstacles during development and at birth. Prenatal testing for these defects can allow doctors to take surgical action right after birth or even while the baby is still in the womb in certain cases. The surgical reasoning for these tests is clear and does not face much controversy, but the most common reasoning, preparation, raises many questions.
\nHealthcare providers and genetic testing laboratories claim that prenatal genetic results are able to provide families with clinical activity, social and informational support, and psychological \u201ccoping\u201d or adjustment. These benefits come with specific restrictions: results must be properly delivered, followed with information, and include clinical surveillance. In an article published in March of 2020, Marsha Michie examines how this process is carried out by following families through the stages of preparation after receiving genetic testing results.
\nMichie found several immediate issues with this process. First, most genetic conditions vary in resulting capabilities and disabilities from person to person. Conditions such as Down Syndrome can severely limit someone\u2019s ability to function on their own, but in other cases people with Down Syndrome can be completely self-sufficient. Genetic testing does not account for these variances. Another problem is that parents who are seeking the preparation that testing can bring sometimes end up experiencing different outcomes after receiving results such as anxiety and worry. The most concerning issue came from a survey of parents who had continued with pregnancy after receiving results indicating trisomy 13 or 18, which are severe genetic conditions resulting in impaired development and birth defects.<\/p>\n
This survey revealed that over 60% of these parents were not offered resources or information to find support by their physicians.<\/span><\/p><\/blockquote>\n
Unfortunately, I can speak to this point from my own observations and experiences. After job shadowing for a genetic counselor, I found that many patients who come to see these counselors have not been given any information from their primary doctors about why they are being sent to a specialist or what they will likely experience. Michie\u2019s findings show that most doctors do not seem to have the correct resources or training to be delivering these genetic testing results on their own. To that my response is thank goodness for genetic counselors! The conceptual model for preparation resulting from this article includes strategizing and contextualizing each family\u2019s unique experiences to minimize the negative effects that may come from receiving genetic testing results. It also calls for experts such as genetic counselors who can effectively provide resources to families both before and after testing.
\nIn conclusion, preparation can be a possible benefit from genetic testing, but only when families are well informed about the potential outcomes, both positive and negative, of receiving such results as well as being provided with continued support and guidance throughout the remainder of pregnancies. Therefore, doctors, lab technicians, genetic counselors, and patients all need to work together to come up with individualized plans and expectations in order to successfully move forward with genetic testing.<\/p>\nMichie, M. (2020). Is Preparation a good reason for prenatal genetic testing? Ethical and critical questions. https:\/\/doi.org\/10.1002\/bdr2.1651<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"
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