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What Do You Know About Genetic Screening And Disorders?

Updated on August 8, 2016

Genetic screening is a routine testing for genetic disorders without the prior suspicion of a genetic disorder. Genetic screening is also the genetic constitution of individuals identified by a simple blood test, also called the genetic map, which not only registered the genetic abnormalities that have been developed, but also the genetic abnormalities that someone sooner or later can have still develop. The investigation thus occurs in people who have no symptoms, or whose family history is no cause for concern. This is in contrast to regular genetic testing. Genetic tests which have defects in a specific gene identified in order to diagnose people with symptoms, or to people who are at risk of a particular genetic abnormality results. Genetic screening is done the same way as a genetic test in which single nucleotide polymorphisms (SNPs) acts as genetic markers.

Genetics (heredity) is engaged in genetic characteristics, these are innate differences and similarities between successive generations. Screening is done to investigate a (basically) healthy population for asymptomatic cases of a disease or condition to come, on the assumption that this condition at an early stage may be better to treat. The aims of genetic screening are basically for prevention, early detection, treatment, reproductive choices and lifestyle choices.

In addition, we must not forget that genetic screening has disadvantages as well as advantages. First and foremost, there are people who do not know whether they are carriers of a mutation and thus at greater risk of developing cancer. Life as a carrier of a mutation is indeed a bit like living with the sword of Damocles over the head. This can be psychologically difficult.

Some Applications of genetic screening in medical fields

Prenatal and neonatal screening:

Genetic screening is widely used in newborn babies. Every newborn example via a heel prick test for phenylketonuria, a recessive genetic disorder that leads to brain damage. Also, the child can be still before birth, so during prenatal, it is screened for severe chromosomal abnormalities, such as Down's syndrome.

Systematic genetic screening of breast cancer:

Around 15% of all cases of breast cancer are hormone-sensitive. These breast cancers tend to be aggressive in nature. A research team from the University Hospital Brussels under the direction of Prof. Jacques De Greve has identified a genetic defect at the root of 25% of these cancers, regardless of whether there is a family history or not. The researchers recommend that women with non-hormone-sensitive breast cancer to be tested systematically genetically. When a patient detected in time that she has a gene mutation carrier to an increased risk of breast cancer, they can quickly begin appropriate treatment. This is vital, because recently a drug exists to treat certain genetic forms of breast cancer.

The team also advocated that all women who have not had breast cancer still in the future, or who have no breast cancer in their family, have the opportunity to undergo genetic testing and this could be a way to preventing breast cancer

Genetic counseling and prenatal screening (Ultrasound and blood tests):

Many women choose to undergo screening during pregnancy. The most performed methods are an ultrasound examination, a Triple Test and first-trimester screening. The latter two are blood tests that indicate how likely a woman having a baby with a chromosome abnormality like Down syndrome. A blood test is often combined with a measurement via ultrasound nuchal translucency, nasal bone, or both.

Amniocentesis or chorionic villus:

In all cases, couples can opt for an amniocentesis or chorionic villus sampling. Which are respectively output from fifteen to eleven weeks of pregnancy, which are administered in one case what amniotic fluid and in the other case flakes of the placenta.

Advice for pregnancy:

For some couples, it is important to seek genetic counseling before pregnancy. This is true for people who know or fear that they are tainted with a certain deviation, such as cystic fibrosis, Huntington's disease or Duchenne muscular dystrophy. The Centre for Medical Genetics can figure out how likely it is for them to pass the disease to their child.

3D ultrasound:

The least intrusive form of prenatal screening is ultrasound. If significant, they have external visible abnormalities, which may come up. But a regular ultrasound is not always guaranteed. If the gynecologist doubts this, then he can advise his patient to take a 3D ultrasound. A 3D ultrasound provides a more accurate and realistic picture than a traditional ultrasound device, making it easier to detect any abnormalities.

Ethnicity dependent genetic testing for expectant parents:

In a screening study Phillis Lakeman offered couples to have children, depending on their origin, carrier testing for cystic fibrosis and / or hereditary anemia. A large majority appeared to be in favor of such tests. An Ancestry-based offering in a Multi-ethnic Society. "

Ethnicity dependent genetic disorders:

Cystic Fibrosis (CF), also called cystic fibrosis is a genetic disorder that occurs mostly in Western Europe. Africans have an increased risk of sickle cell disease, while people from the Mediterranean are often carriers of beta-thalassemia. The latter two diseases are hereditary forms of chronic anemia. Expectant parents can - although healthy but self - unconscious carriers of these serious hereditary diseases. If they are both carriers of the same disease, there are possibilities that their child will get the disease in a ratio of 1 to4.

Testing/Screening is vital

Couples with a child wish to know in advance whether they are carriers, have choices as regards having children, this idea is behind the provision of genetic testing. Participants completed a decision model with questions about their original origin. On that basis, it was determined whether they received a carrier test for CF and / or hereditary anemia (sickle cell disease and thalassemia).


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