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In this article, we will discuss the advantages of genetic screening, using the examples of breast cancer (BRCA1 and BRCA2), Huntington’s disease, and cystic fibrosis. At the end of the article, we will also discuss the social and ethical concerns surrounding the practice of genetic screening.
Genetic Screening
Some situations, for instance, being pregnant at an older age or having a family history of a genetic disease may need individuals to know if a specific allele is present in their genome. Genetic screening can help to determine it because it can identify individuals who are carrying an allele at a gene locus for a specific disorder.
Genetic screening refers to the testing of an embryo, fetus, or adult to analyze the DNA
How is a DNA sample obtained?
The DNA sample may be obtained by:
- Taking samples of tissues from adults or embryos produced via in-vitro fertilization
- Amniocentesis or chorionic villus sampling of fetuses and embryos in the uterus
What impact does genetic screening make on future parents?
Future parents should seek help from genetic counsellors after genetic screening who can interpret the results for them. The counsellors can also be consulted before the screening. Genetic counsellors can address the following concerns of the future parents:
- The probability of a couple having a child with a specific disorder
- Whether parents should terminate the pregnancy or not
- If there are any therapeutic treatments available for the child?
- What will be the financial implications for the parents if they continue with this pregnancy?
- How can the current pregnancy affect the existing siblings of the child?
- Any other ethical or moral concerns
Breast cancer (BRCA1 and BRCA2)
The genes BRCA1 and BRCA2 produce tumour suppressor proteins and hence they play a fundamental role in regulating the growth of the cell. The faulty alleles of these genes present in an individual are attributed to the increased risk of developing breast or ovarian cancers in the future. A person may inherit the faulty alleles of BRCA1 and BRCA2 from either parent.
Advantages of genetic screening for a person having the faulty alleles
Genetic screening offers certain advantages for a person who possesses a family history of BRCA1 and BRCA2 gene mutations. These advantages are discussed below:
- Based on the results, a person can be preventative measures to avoid the disease in the future. For instance, an individual may choose to have an elective mastectomy, i.e. breast removal to minimize the risk of developing cancer in the future
- Breast screening may start from an earlier age. A female can have more frequent clinical examinations of the ovaries.
- It allows a person to take part in research and clinical trials.
Huntington’s Disease
Huntington’s disease is a progressive genetic disorder that affects the brain of an individual. This disease gets worst with time.
What are its symptoms?
The symptoms of this disease especially appear in individuals when they are in their 40s. The symptoms include:
- Emotional problems
- Lower cognitive ability
- Uncontrolled movements
Is there any cure for this disease?
No, there isn’t any permanent cure for this disease, however, certain treatments are available that can help to minimize the symptoms. Remember that Huntington’s disease is an autosomal dominant disease which implies that if an individual possesses the allele for Huntington’s disease, then he/she will get that disease.
Advantages of genetic screening for Huntington’s disease
The advantages of genetic screening for Huntington’s disease are:
- People with this allele can do future planning, i.e. how they will live and be cared for when they will get this disease
- It allows the couples to make informed reproductive decisions because there is a 50% chance that their children will inherit this disease
- It enables individuals to participate in research and clinical trials
Cystic Fibrosis
A mutation of the gene that encrypts for a transported protein known as CFTR causes an autosomal recessive genetic disorder referred to as cystic fibrosis. Like Huntington’s disease, it is a progressive disease which means that it gets worst with time.
What happens in this disease?
In this disease, the mucus in different organs, i.e. pancreas and lungs of an individual becomes thick and sticky. This is because the faulty CFTR protein cannot transport chloride ions across the cell plasma membrane of the person any longer. Hence, the water is unable to move across the membrane by osmosis. In normal people, the presence of water makes mucus thinner which allows the cilia to remove it.
Is there any cure for cystic fibrosis?
There is no cure for cystic fibrosis, however, certain treatments are available which can minimize the symptoms.
Advantages of genetic screening for cystic fibrosis
The advantages of genetic screening for cystic fibrosis are:
- It allows the couples to make informed reproductive decisions about their future child
- It enables people to participate in research and clinical trials
Ethical and Social Issues of Genetic Screening
The use of genetic screening has many potential concerns that should be considered because these concerns differ and depend on an individual’s religious, moral, and social beliefs. For instance:
- A religious belief of the person that God is in control implies that the pregnancy should not be terminated, no matter what the results of the genetic screening are
- A belief that embryos are future human beings from conception which makes discarding embryos or abortion at any stage impossible
- A belief is that abortion should be done only up to a specific stage of the pregnancy. It makes termination impossible at the later stages of the pregnancy
- Some individuals believe that bringing a child into this world who can have possible health issues is unethical. Moreover, some people may believe that they cannot take care of an unhealthy child. People with these beliefs can consider abortion
- Genetic screening for some non-life threatening diseases like down syndrome may come positive. The prospective parents may choose to abort the pregnancy based on these results, however, there is a probability that the fetus could develop into a normal child and live a full and happy life
- The embryos or unborn babies are unable to give their consent or make decisions about their future. Some people believe that these embryos and unborn babies deserve full human rights even at this stage. Hence, prospective parents cannot take decisions on their behalf.
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