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Essay Unit 22 - Genetics assignment 2
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Genetics report- assignment 2Life chances is a social science theory of the opportunities everyone must improve his or her quality of life. The
concept was introduced by German sociologist Max Weber (United Nations Economic and Social Commission for
Western Asia, 2015).
Genetic predisposition is an increased chance or likelihood of developing a particular disease based on the presence
of one or more genetic variants and/or a family history suggestive of an increased risk of the disease (National
Cancer Institute, 2022).
PIES – physical, social, emotional, and social development/needs.
P4- Explain how reproductive and gene technologies can contribute to promoting life chances
M3- Analyse the impact of reproductive and gene technologies for a selected individual and society in relation to
promoting life chances.
There are four main types of genetic disorders, such as, Single-inheritance genetic
diseases, Multifactorial genetic inheritance disorders, Chromosome abnormalities,
and Mitochondrial genetic inheritance disorders. Single inheritance genetic disorders
are Some of the more common single-gene disorders include cystic fibrosis,
hemochromatosis, Tay-Sachs, and sickle cell anaemia. Even though these diseases
are primarily caused by a single gene, several different mutations can result in the
same disease but with varying degrees of severity and phenotype (Genetic Alliance
and Columbia, 2010). Cystic fibrosis is an example of a single inheritance genetic
disease. CF causes thick mucus that clogs certain organs, such as the lungs, pancreas, and intestines. This may cause
malnutrition, poor growth, frequent respiratory infections, breathing problems, and chronic lung disease
(Hopkinsmedicine.org, 2021). Another example, of a single inheritance genetic disease can be seen through sickle-
cell anaemia. This is a disease that is inherited through an individual’s parents. It causes abnormally shaped red-
blood cells, which carry the oxygen around the body. Sickle cells that block blood flow to organs deprive the affected
organs of blood and oxygen. In sickle cell anaemia, blood is also chronically low in oxygen. This lack of oxygen-rich
blood can damage nerves and organs, including kidneys, liver, and spleen, and can be fatal (Mayo Clinic, 2022).
Multifactorial genetic inheritance disorders are when more than 1 factor causes
a trait or health problem, such as a birth defect or chronic illness. Genes can be a
factor, but other things that aren't genes can play a part, too
(Nationwidechildrens.org, 2022). An example, of this can be seen through
arthritis, it can be inherited through mutations within genes for collagen. In
general, the first sign of arthritis is pain, also called arthralgia. This can feel like a
dull ache or a burning sensation. Often, pain starts after you've used the joint a
lot, for example, if you've been gardening or if you just walked up a flight of stairs. Some people feel soreness first
thing in the morning (Watson, 2013). Another example of this can be seen through diabetes since it can be inherited
through family history and previous cases of the disorder within families. Some symptoms include urinating often,
hunger, weight loss, slow healing for cuts, burry vision etc. You're more likely to develop the condition if a parent or
sibling has it. Several gene mutations have been linked to the development of type 2 diabetes. These gene mutations
can interact with the environment and each other to further increase your risk (Tab Ackman, 2021).
Chromosome abnormalities can be numerical or structural. A numerical abnormality means an individual is either
missing one of the chromosomes from a pair or has more than two chromosomes instead of a pair. A structural
abnormality means the chromosome's structure has been altered in one of several ways (Genome.gov, 2019). An
example of this can be seen through a disorder called Down syndrome which is
the result of an abnormality in chromosomes. Down syndrome is a condition in
which a person has an extra chromosome. Chromosomes are small “packages” of
genes in the body. They determine how a baby's body forms and functions as it
grows during pregnancy and after birth. Typically, a baby is born with 46
chromosomes (CDC, 2021). Another example, of a chromosomal abnormality can
be seen through Klinefelter syndrome. Klinefelter syndrome is a genetic condition
, that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a genetic condition
affecting males, and it often isn't diagnosed until adulthood (Mayo Clinic, 2019).
Finally, the last main type of genetic disorders are mitochondrial genetic inheritance disorders. Mitochondrial
diseases are long-term, genetic, often inherited disorders that occur when mitochondria fail to produce enough
energy for the body to function properly. One in 5,000 individuals has a genetic mitochondrial disease. Symptoms,
diagnosis, and treatment are discussed (Cleveland Clinic, 2018). An example of this can be seen through Pearson
syndrome. Pearson syndrome is a severe disorder that usually begins in infancy. It causes problems with the
development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into
different types of blood cells. For this reason, Pearson syndrome is considered a bone marrow failure disorder
(Medlineplus.gov, 2015). Another example of this can be identified through Leigh’s disease. Leigh syndrome is a
severe neurological disorder that usually becomes apparent in the first year of life. This condition is characterized by
progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two
to three years, usually due to respiratory failure (Medlineplus.gov, 2016).
Gene and reproductive technology can contribute significantly to positive life chances. For example, with IVF the
parents and health care professional can choose the best embryo out of the selection that they have to ensure the
baby has the best life chances. IVF involves several steps — ovarian stimulation, egg retrieval, sperm retrieval,
fertilization, and embryo transfer. One cycle of IVF can take about two to three weeks. More than one cycle may be
needed (Mayoclinic.org, 2021). Through selecting the best embryo through IVF, they can identify if any genetic
disorders are present as well as if they are pre-disposed to any. For example, they can identify whether an embryo as
Down’s syndrome since it is present at conception. Through choosing an embryo with no genetic conditions, it will
give them the best possible life chances. Genetic screening can also help to promote life chances for the foetus. The
process of testing individuals in each population to identify those who have an increased risk of having or developing
a particular genetic disorder or carrying a genetic variant for a particular disorder (National Cancer Institute, 2022).
Through using genetic screening to identify any genetic conditions in can promote positive life chances in several
ways. For example, through identifying if a baby has Cystic fibrosis, the parents can investigate treatment options
and identify what they think is best. They will be able to put a health care plan in place to ensure that the baby has
the best life chances.
Down’s syndrome:
Down’s syndrome is often screened and tested for during pregnancy. It can be found at first conception since it is a
chromosomal abnormality. For example, down’s syndrome can be screened for during the 10 th to the 14th week of
pregnancy. The screening will involve the mother having a combined test which will involve an ultrasound scan and a
blood test. At the time of the scan, the fluid at the back of the baby’s neck will be measured. That age of the mother
and the results from the performance of these two tests can be used to determine the chance of the foetus having a
chromosomal disorder such as, Down’s syndrome. The NIPT offers women an accuracy rate of about 99% in
detecting Down's Syndrome in a foetus, compared to 84-90% with the conventional 'combined test' offered on the
NHS, which involves an ultrasound scan and blood test (Ormond, 2015). Family history can also be used to determine
the likelihood of a baby being born with downs syndrome. For example, if there are significant amounts of cases
present within your family, you are more likely to have a baby that has down syndrome. your history or family
history suggests that there may be an increased chance of your baby having a genetic or chromosomal condition
such as Down's syndrome, sickle cell disease, or thalassaemia (indirect, 2019).
Through identifying if a foetus has down’s syndrome, the parents can ensure they can create a plan and research the
condition to promote positive life chances. For example, the parents can research the intellectual abilities of a child
with downs syndrome, so that they are able to put the correct education in place so that the child can attend
education to prepare them for the future. They will be able to investigate the different symptoms that the genetic
condition can cause. For example, the muscle weakness can cause pain and frequent falls. Through identifying this,
the parents will be able to create a plan to manage this pain and give the child a better quality of life. Due to weak
muscle tone, the kneecaps of a child with Down syndrome may slip out of the groove. This instability will cause the
knees to look deformed but may not cause any other symptoms. Many children will continue to walk, while others
may experience pain and frequent falls (Aaos.org, 2019). Through the parents having knowledge that their child has
down syndrome through genetic screening it will allow them to identify what health care professionals’ individuals
with the condition usually must see. They will then be able to research where these professionals are closest to them
and figure out what treatment and support will be most beneficial; this will promote positive life chances
significantly.
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