Screening & Diagnosis: Hereditary Screening
With the advancement in medical technology, it is now possible to screen early for hereditary health disorders in ensuring prevention and targeted care for illnesses that may follow you from one generation to another.
Despite leading a healthy lifestyle, sometimes we may end up inheriting certain illnesses. Often, we only know about the health disorder when the symptoms start manifesting, or when it is too late. The good news is that with the advancements in the medical field nowadays, there are ways to quickly detect these potential illnesses and find ways to address the matter as early as possible.
Genetic Testing
Genetic testing is a way providing answers to potential health disorders you may inherit. Popularly known as DNA testing, genetic testing helps an individual know his or her family’s genetic make-up from their deoxyribonucleic acid (DNA) molecules. Such tests also help couples desiring children as well, as the DNA molecule carries the genetic instruction for the reproduction, development and function apparatus of the human body.
According to the American Medical Association (AMA), there are currently over 2000 types of genetic tests available to aid in the diagnosis and therapy for over 1000 different diseases. Genetic testing helps by:
- Diagnosing diseases which are inherited or not
- Identifying the genetic mutations that are the cause for diseases
- Assessing the severity of diseases
- Identifying the genetic mutations that increase the chances of developing diseases
- Identifying the genetic mutations that could be inherited by a person’s offspring
Genetic testing is conducted by taking samples from a person’s blood, saliva, hair, skin, cells (from within the mouth), fluid (from around a developing foetus) and tumours. Utilising these mentioned samples, several types of genetic testing /screenings can be undertaken. According to the US National Library of Medicine, such tests /screenings consist of:
- New-born: A screening procedure that is normally undertaken in between 24 and 48 hours after the birth of an infant. The screening is to assess if an infant possesses any genetic disorders that can hinder the development as the child.
- Diagnostic: A test to assess if a person or unborn infant has any genetic related disease, which is either apparent based on physical signs or symptoms, or could develop in the near future. According to the AMA, mutation in a single gene has been the cause for over 4000 diseases, which includes cystic fibrosis and Huntington’s disease. However, this test does not apply to all genes present in the human genome, or for all genetic conditions.
- Carrier: Normally undertaken by parents-to-be in order to assess if they carry a genetic mutation that could develop as a genetic disorder in their offspring. This is a crucial test for individuals who have a family history of genetic disorders, or ethnic groups who are susceptible to specific genetic conditions.
- Prenatal: A test that is undertaken to assess if an unborn infant is at risk of developing a genetic disorder such as cystic fibrosis, Tay-Sachs disease, Down Syndrome or sickle cell anaemia. This test is conducted during the first few months of pregnancy but will not be able to identify all disorders or birth defects.
- Pre-implantation Genetic Diagnosis (PGD): PGD is a test that is meant to reduce the risk of parents-to-be having a child with a particular disorder. This test involves a process of in-vitro fertilisation, where a number of egg cells are removed from a woman’s ovaries, fertilised with sperm cells, and tested for specific genetic changes. Embryos from the fertilisation process that show no sign of genetic changes are then implanted into the uterus to initiate pregnancy.
- Presymptomatic & Predictive: Two types of tests are undertaken using a person’s DNA. The Human Genetics Society of Australiasia explains that both tests assess whether a person, who shows no symptoms for a specific genetic disorder but has a family history of it, has or has not inherited it.
Forensic & Paternal Testing
Technology in the field of medicine has made strides in many areas, more so in the specialised field of genetics. While not related to the health aspect of individuals, genetic testing is also used for forensic and paternal purposes. This can assist in establishing biological relationships between people. The marvel of human ingenuity in endeavouring to achieve greater heights couldn’t be more apparent than in this particular field. One day, it would be possible to correct abnormalities, disorders and defects a person or infant might have. And with that achievement, the eradication of diseases too will come.
However, the cost of genetic testing can be prohibitive, but it is best to discuss with the doctor first. The cost depends on the screening on the number of conditions. Still, DNA testing is gaining traction not just for inherited disorders, but also among health conscious individuals who want to extend their lives and live healthily.
One day, preventative care will be customised to one’s healthcare needs. The future of good health and longevity is around the corner. DNA testing is just the beginning.
References:
ghr.nlm.nih.gov
ww.hgsa.org.au
