What is it?

Genetic tests can be used to affirm or dismiss a genetic disease or to determine the chance of someone passing on a mutation to their children. It can be performed prenatally or after birth. Your doctor will usually take a sample of blood, saliva, or skin for laboratory analysis. It could take from 2-8 weeks. There is usually a genetic counselor to discuss the meaning of the results with the patient. 

What does it identify?

A genetic test can reveal any errors or abnormal conditions that could potentially predispose you to disease down the road. Your genes can tell you a lot. They can tell you if you are more likely to develop cancer, or if you have an increased chance of being affected by some condition. Genetic tests can also tell you if there are some traits you could potentially pass down to your children. 

There are a lot of uses to genetic testing, but it’s especially important during pregnancy because it can tell you a lot about your future child. There are many different kinds of genetic tests. There is no single genetic test that can detect all genetic conditions. The approach to genetic testing is individualized based on your medical and family history and what condition you’re being tested for.

Genetic testing looks for changes in your:

• Genes: to identify mutations that increase a genetic disorder risk. 
• Chromosomes: to analyze whole chromosomes or long lengths of DNA to check for large genetic changes. 
• Proteins: to study the activity level of proteins or enzymes.

There are different types of genetic testing for different reasons. 

Where can you find it in Ethiopia?

Genetic testing and DNA-based diagnostic is a relatively new concept in Ethiopia. There are a few places that provide genetic testing in Ethiopia. 

• MiGene Family History App

MiGene Family History is a mobile health (mHealth) application that presented community genetics services for low-income countries. The MFHA was launched in 2016 at St. Paul’s Hospital Millennium Medical College (SPHMMC). This is the first Ethiopian community genetics program and the first to use a mHealth tool to introduce medical genetics services.

It has three functions 

• Collect a patient’s family history
• Deliver genetic counseling resources based on patient and family history data
• Analyze the collected data to determine the occurrence congenital anomalies and genetic diseases in a population

Family history information consists of the proband’s (a person who is the starting point for a family’s genetic study) living and deceased children, siblings, parents, aunts, uncles, and grandparents, and if family members are affected with a congenital anomaly or genetic disease. After data entry, healthcare providers are provided with genetic counseling information on all conditions present in the patient and/or family. 

The tool focuses on the most common congenital anomalies and genetic diseases globally such as:

• Neural tube defects: Brain and spine defects

• Trisomy 21 (Down Syndrome):  is a genetic condition caused by the presence of all or part of a third copy of chromosome 21. It is one of the most common chromosome abnormalities.

• Cleft lip and/or cleft palate: a condition where there is an opening or split in the upper lip and roof of the mouth or both.

• Heart deformations: a structural defect of the heart or vessels or both

• Hemoglobinopathies: inherited blood disorders and diseases that primarily affect red blood cells

• Intellectual disability: a learning disability distinguished by impaired intellectual and adaptive functioning

• Multiple congenital anomalies: multiple deformities

• Other single congenital anomalies: Cerebral Palsy (affect movement, muscle tone, balance, and posture.), Club Foot (the affected foot is rotated internally at the ankle), and more

1. MRC-ET Advanced Laboratory

MRC-ET Advanced Laboratory is a molecular diagnostic research laboratory center located in Gerji area near Kadisco hospital. MRC-ET engages in research and teaching activities and develops genetic tools to create a genetic survey for Ethiopia’s population. In the country’s health system, molecular diagnostics and genetic screening & testing are among the unexplored areas. 

The center uses Multiplex Ligation dependent Probe Amplification, which detects different genetic changes caused by pointing to mutations; copying, multiplications, & eliminations of a large number of genes; and changes in subtelomeric regions (associated with genome evolution and disorders). MRC-ET tests for congenital heart disease, growth hormone deficiency, autism spectrum disorder, epilepsy, Alzheimer’s, chromosome analysis, down syndrome, and more.

MRC-ET uses MLPA kits that can detect different syndromes and diseases like:

• Prenatal and postnatal screening for syndromes like Down, Edwards, Patau, DiGeorge, and more
• Hereditary cancer like breast cancer, Ataxia telangiectasia, colon cancer, Fanconi anemia, and more
• Pharmacogenetics products for DPYD deficiency and TPMT
• Tumor analysis products for breast, ovarian, cervical tumors, and more