In: Nursing
1. the pros and cons of genetic testing and the protections in place for those who have genetically caused diseases.
Genetic testing is a type of health program that involves the identification of any changes in genes, chromosomes, and proteins. There are a lot of types of genetic testing depending on what you want to test. Genetic testing can range from biochemical tests, molecular approach, or simply family history questionnaires. To perform a genetic test, a tissue from any organ that usually develops during pregnancy can be obtained. Examples of such are the placenta, amniotic fluid (pregnant woman’s water), bone marrow, or blood.
Advantages of Genetic Testing
There are a lot of potential advantages which can arise as a result
of genetic testing. The following are some of them.
1. Early prevention and
treatment of disease
As with any disease, early diagnosis of the disease will greatly
help in faster treatment. The results of genetic testing can also
help your healthcare provider in predicting the likelihood and
deciding about the management of the disorder. In addition, the
results of the test can also help one to learn more about the
genetic disease and how it may possibly affect them and their
relatives as well.
2. Peace of
mind
For some people, finding out that they do not have the gene for a
certain disease can become a blessing. They may feel a lot more
peace because of the fact that they have not passed any gene
abnormality to their children. In addition, because they no longer
require the same type of medical treatment as with people who have
the gene, the resources can be allotted to those who have the risk
of having the disease.
3. Can determine
parenthood
Genetic tests can be helpful in establishing evidence for the
parenthood of a person for a case like child custody and support.
The results of genetic test can also be used as a support for
placing a parent’s name on the birth certificate of a child.
Depending upon the country/state where you live in, DNA testing can
be ordered by the judge for settling disputes in child custody
laws.
4. The results can aid
decisions in the future
For instance, if there is a low probability of passing a certain
unwanted genetic condition, couples can have be assured that they
can have children free of the disorder. On the other hand, a
positive result may give the couple an idea of deciding not to have
children because doing so may result to a high risk of their child
developing the condition.
5. Can examine developmental
delays in children
Like how it can determine parenthood, being genetically tested can
be helpful is determining and interpreting developmental delays in
children. Reasons for significant lags in physical, mental, and
emotional growth can be determined.
Also if a woman has two or more miscarriages or pregancy over age
34, genetic testing will be helpful for early diagnosis which can
help identify the appropriate treatment options.
Disadvantages &
Limitations of Genetic Testing
While the process has indeed great advantages, there are several
disadvantages that a person who wishes to undergo testing should be
aware of. The following are some of them.
1. Physical
risks
The physical risks associated with most genetic tests are indeed
very small as some tests only require mere blood or tissue samples.
However, some tests can be really destructive. As an example, the
methods for prenatal testing involves the acquisition of amniotic
fluid around the fetus. Such practice can be really dangerous
because the mother may suffer from miscarriage.
2. May cause emotional and
psychological stress
As alluded to earlier, the results of genetic testing can provide
freedom from any uncertainty. However, in some cases, the results
of genetic testing may create an emotional trauma for the person
who finds out that he/she has a certain disease. It can lead to an
increased anxiety to the individual as he might blame himself for
possessing a gene that causes the disorder and potentially passing
it onto their children.
3. May cause tension among
family members
In relation to this, the results of these tests may also create
tension among family members when an information about a family
member is revealed. Having a negative test can cause emotional
distress to the person because it gives him/her the feeling of
“survivor guilt” from being unaffected by the disease while his/her
sibling is at risk.
4. Genetic discrimination
may happen
Genetic discrimination is the condition wherein a person feels and
gets discriminated due to the fact that he/she possesses a genetic
abnormality that increases the chances of him/her developing a
certain genetic disorder. And because the results of genetic tests
are included in a person’s medical history, the fact that he/she
has this abnormality becomes known to employers and other people in
the workplace. As a result, people may treat him/her
differently.
5. The information is very
limited
While it is true that some tests can be very specific about the
genetic disorder, these test often cannot tell the severity of the
manifestation of the disease. Also, a negative result may not be
conclusive because it is not possible for a single test to identify
all the genetic changes and abnormalities in a certain disorder.
Because of this, additional tests may be necessary. Another thing
is that while most genetic disorders can be easily diagnosed using
these tests, there are still potentially millions of genetic
mutations which are still not understood. Furthermore, treatment
strategies are still lacking.
6. Gene products (from
tissue samples) are unstable
For instance, one disadvantage of using biochemical test as a
genetic test is that proteins from the tissue samples are more
unstable that the gene itself. Easy deterioration of samples means
a higher chances of inaccuracy in the results. Therefore, they
should be properly stored and analyzed immediately after
obtaining.
7. Tests can be
costly
The price of having genetic test will depend on various factors
including the type of test and the clinic you visit. According to
the National Human Genome Research Institute, the average cost of
genetic testing in the US can range from less than $100 to $2,000!
And as mentioned above, a single test may not be able to determine
all genetic abnormalities so additional tests may be advised. The
expensive price of genetic testing is only suitable for a small
groups of patients because only those who can afford it can be
tested.
3. what is BRCA 1 and 2 Testing. And would you do it
BRCA1 and BRCA2 (BReast CAncer genes 1 and 2) are the best-known genes linked to breast cancer risk. ... BRCA1/2 mutations can be passed to you from either parent and can affect the risk of cancers in both women and men. A person who has a BRCA1/2 mutation is sometimes called a BRCA1/2 carrier.
The genes are very similar. But harmful mutations in BRCA1 can lead to breast cancers that are harder to treat because they don't respond to hormone therapies used to treat tumors that occur more often in women with BRCA2 mutations.
BRCA1/2 testing is only recommended for certain people with a high risk of having a BRCA1/2 gene mutation, including those with:
There is only a very small chance your family carries a BRCA1/2 mutation if you or a family member is the only person in your family with breast cancer and the breast cancer occurred at an older age.
In most cases, genetic testing is not recommended when there is a low chance of finding a mutation.
4. what is diabetes. What
are the difference types. And why should people get tested for
it.
Diabetes is a disease that occurs when your blood glucose, also
called blood sugar, is too high. Blood glucose is your main source
of energy and comes from the food you eat. Insulin, a hormone made
by the pancreas, helps glucose from food get into your cells to be
used for energy. Sometimes your body doesn’t make enough—or
any—insulin or doesn’t use insulin well. Glucose then stays in your
blood and doesn’t reach your cells.
The most common types of diabetes are type 1, type 2, and gestational diabetes.
Type 1
diabetes
If you have type 1 diabetes, your body does not make insulin. Your
immune system attacks and destroys the cells in your pancreas that
make insulin. Type 1 diabetes is usually diagnosed in children and
young adults, although it can appear at any age. People with type 1
diabetes need to take insulin every day to stay alive.
Type 2
diabetes
If you have type 2 diabetes, your body does not make or use insulin
well. You can develop type 2 diabetes at any age, even during
childhood. However, this type of diabetes occurs most often in
middle-aged and older people. Type 2 is the most common type of
diabetes.
Gestational
diabetes
Gestational diabetes develops in some women when they are pregnant.
Most of the time, this type of diabetes goes away after the baby is
born. However, if you’ve had gestational diabetes, you have a
greater chance of developing type 2 diabetes later in life.
Sometimes diabetes diagnosed during pregnancy is actually type 2
diabetes.
Other types of
diabetes
Less common types include monogenic diabetes, which is an inherited
form of diabetes, and cystic fibrosis-related diabetes.
Blood sugar testing — or self-monitoring blood glucose — provides
useful information for diabetes management. It can help you: