Biology, Fundamentals

Scientific Truths and Questions of Morality on Genetic Testing

On Gender Equality in Parenting, Fatherhood and Human Paternal Behavior

Human well-being is not a random phenomenon. It depends on many factors – ranging from genetics and neurobiology to sociology and economics. But, clearly, there are scientific truths to be known about how we can flourish in this world. Wherever we can have an impact on the well-being of others, questions of morality apply.”

–Sam Harris

Modern Mother and Child Genetics Testing Methods

Mother and child genetics has become increasingly relevant in today’s society for many reasons. Genetic testing is becoming widely available for a variety of purposes. For a variety of reasons, many prospective parents are availing themselves of modern technology to give their children a head start in life. For example, prospective parents with a history of certain types of hereditary diseases and conditions are beginning to seek genetic testing and counseling before having children.

There is now a wide range of diseases that can be detected with modern genetic testing, including some forms of cancer, cystic fibrosis, Down’s syndrome, fragile-x syndrome, hemophilia, Huntington’s Disease, Lou Gehrig’s Disease, neurofribromatosis, muscular dystrophy, phenylketonuria, sickle cell anemia, and Tay-Sachs disease.

Counselors are able to evaluate genetic tests and advise people of the risk of conceiving a child with recessive genes that may manifest in these diseases. Genetic tests can now be performed on fetuses by taking cell samples from the womb. The two techniques now widely available are called amniocentesis and chorionic villi sampling. Most newborns are given a blood test for phenylketonuria, which is a a genetic disease that can cause mental retardation if it goes undiagnosed, after birth.

Amazingly enough, there are now biochips, also called DNA arrays or microarrays, that promise to make a variety of genetic tests faster and easier than ever before. With the use of biochips, each glass slide or “chip” contains multiple rows of DNA probes, which test for the presence of a specific DNA sequence. If a specific sequence that signifies a mutation is present, a specific spot on the biochip will glow under a special light. This method allows for testing for thousands of mutations at once.

The use of biochips could very well result in the use of genetic ID cards that carry all of an individual’s genetic information. While such a card may be helpful for doctors, who could use it to determine the right dosage of the right drugs, many are apprehensive about potential abuses of this technology. For example, many potential mothers have expressed a desire to use it to determine the sex of the fetus, which depending upon the culture, may result in aborting a fetus.

Another new form of testing mother and child genetics is called tandem mass spectometry. The mass spectrometer is a device that separates and quantifies ions. For example, organic acid derivatives are subjected to gas chromatography before entering the mass spectrometer, where they are ionized and fragmented to determine their abundance. The tandem mass spectrometer is made up of two quadrupole mass spectrometers that are separated by a reaction chamber. The genetic testing process takes only a few seconds. The data can be analyzed either by using a parent ion to obtain an array of all parent ions capable of producing a daughter ion when fragmented, or in a neutral loss mode to obtain an array of all parent ions that lose a common neutral fragment.

Ethical Considerations of Mother and Child Genetics Testing

There are a number of ethical considerations surrounding the testing of mother and child genetics, some of which does not provide enough information for parents to make difficult decisions. Additionally, there are some tests that may provide false negatives or positives. Modern mother and child genetics testing is able to identify approximately 80% of neural tube defects in pregnancies and approximately 60% of pregnancies in which Down syndrome is present. False negative or positive tests often result in further testing and increased anxiety about having to decide whether it is in the best interests of the child to terminate the pregnancy.

It is also believed that some mother and child genetics testing for some conditions for which there are no treatments can cause potential psychological harm. Other ethical issues include stigmatization and potential discrimination. In countries in which health care insurance determines whether a person can receive treatment, such as the U.S., there is a concern that test information might be used to limit people’s access to employment or health insurance.

Maintaining confidentiality of medical information is essential, but there is still a risk of discrimination against people who have a positive result on a genetic test. Patenting of genes is another ethical consideration. The ability to isolate genes has raised the issue of the right to patent them. In Australia there have been three preliminary cases of gene patenting. In the U.S, the Federal Government issued a response in 2011 confirming that the government does not prohibit gene patenting, but will attempt to ensure that gene patents do not lead to people being denied “reasonable access to healthcare”.

Guidelines for genetic testing must reflect the value of each and every potential child, capable of being valued and loved beyond measure.

mother and child genetics
Genetic Testing. Pic by Neil Palmer (CIAT). Plant samples in the gene bank at CIAT’s Genetic Resources Unit, at the institution’s headquarters in Colombia
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