What Is Genetic Disease
Genetic disease results from genetic mutations passed down to offspring from one or both parents. When an individual inherits gene variants, their likelihood of developing a genetic disorder increase. Not every person who carries gene mutations gets genetic disease. The change in the amount of gene material can enhance the risk of genetic disorders. The symptoms of genetic diseases might develop at birth in some. In others, the disease may progress slowly with time. In this blog, we shall discuss the basics of genetic diseases and understand their nature. Keep reading.
About Genetic Diseases
A person may inherit several abnormalities in their DNA. The DNA abnormalities increase a person’s chances of getting a genetic disorder. DNA abnormalities can result from variations in a single gene, multiple genes, or changes in the structure of chromosomes. Any change in the number of chromosomes can also contribute to abnormalities. Genetic variations pass down from one or both parents to the child. New mutations can also occur on their own because of some environmental factors. Exposure to UV radiation or chemicals can trigger new DNA mutations spontaneously.
Types Of Genetic Diseases
- Single Gene Disorder – Such gene disorder occurs due to variations in a single gene. The mutations that lead to single-gene disorders can disrupt the gene function. Gene malfunction can enhance the risk of various diseases. Examples of single-gene disorders include cystic fibrosis, sickle cell anemia, and several other diseases.
- Multifactorial Disorder – Such disorders occur due to the combination of genetic and environmental factors. Various factors including genetics, environment, and lifestyle cause multifactorial disorders. Diseases such as diabetes, heart disease, and certain types of cancers come under the multifactorial disorder category. Treatment of such complex disorders involves assessing all the factors that influence such diseases.
- Chromosomal Disorder – Changes in the number or structure of chromosomes increase the risk of chromosomal disorders. In this condition, some chromosomes might be missing or have duplicated chromosomes. People with chromosomal disorders are physically and intellectually challenged. The reason for physical or mental abnormalities happens during the development of reproductive cells. Parents may pass down chromosomal anomalies to the child. The abnormalities can be present in an individual from birth. Genetic testing or karyotyping are the confirmatory tests for chromosomal disorders. The tests help identify symptoms of chromosomal disorders for proper management.
- Mitochondrial Disorder – This type of disorder occurs due to the DNA variations happening in the mitochondria or nuclear genes. The mutations affect the mitochondrial function by impacting the process of energy synthesis.
Diagnosis for Genetic Diseases
Diagnosis determines the type of genetic disease. Once the reason is known, treatment can be given. The diagnostic evaluation tests for genetic disorders include:
- Genetic Testing – Genetic tests analyze gene mutations or variations that increase the risk of genetic disorders. The tests determine the type of mutations and the risks associated with them. Genetic testing involves several techniques like karyotyping, polymerase chain reaction (PCR), and next-generation sequencing (NGS). The tests help determine genetic mutations.
- Prenatal Testing – Prenatal tests involve the detection of birth defects in a developing fetus. It covers prenatal analysis, screening, and diagnosis. To perform this test, the mother’s blood sample is taken. The baby’s DNA is separated from the mother’s blood to check for abnormalities. Early screening will reveal risks of health problems to the fetus and the mother. Timely treatment will enable us to strategize management techniques to reduce the risk.
- Newborn Screening – Newborn screening is necessary, as it detects the presence of certain genetic mutations. Early screening helps with timely treatment. Treatment can be started right away once the risk is known.
Treatment for Genetic Disease
- Symptomatic Treatment – This treatment helps manage genetic diseases. It also reduces the symptoms of genetic disorders. The treatment techniques involve medication, physical therapy, and lifestyle modifications. In some cases, surgical interventions will also be needed to prevent the risk of complications. Dietary adjustments are essential for speeding up the recovery time.
- Gene Therapy – Gene therapy is a treatment that aims to replace, inactivate, or repair defective genes. The processes in this therapy help treat and prevent genetic disorders. Therapists perform gene therapy by introducing and replacing healthy genes. Impaired genes will become inactive after the therapy. The therapy repairs the mutated genes. Gene therapy focuses on determining the root cause of genetic disorders.
- Genetic Counseling – Genetic counselors discuss information with individuals and families. The counselor provides support for effectively managing genetic conditions. The counseling sessions involve determining the risk of inherited genetic mutations that can cause genetic disorders.The session involves interpreting genetic test results. Based on the outcomes, the counselor will offer guidance on the management of genetic conditions. A suitable treatment option will be chosen. Counseling also helps in making important decisions like family planning. Genetic counselors help clients make informed decisions and cope with genetic health concerns.
Genetic Testing for Genetic Disease
The presence of genetic disease in an individual is determined through genetic testing. Genetic testing is one of various techniques that identify genetic variants.
The test involves the process of analyzing a person’s DNA. The results will help identify the mutations and changes that can hint towards the risk of genetic disorders.
Gene analysis encompasses the detection of single-gene mutations, chromosomal abnormalities, or multifactorial conditions. For analyzing the genes, sequencing of various genes is done.
Analysis of genes can confirm a diagnosis, inform treatment decisions, assess disease risk, and guide family planning.
A genetic counselor understands the results of the analysis, identifies implications, and helps make informed decisions. The counselor helps make better health choices.
The tests have a crucial role in personalized medicine. Early intervention will help efficiently manage genetic disorders.
Conclusion
An individual who carries gene mutations doesn’t need to get the disease. Such individuals are more likely to develop one in the future. Individuals who are predisposed to genetic variations are prone to develop genetic disorders.
Genetic disorders encompass a wide range of disorders due to DNA changes, and their impact on health. Advancements in genetic testing and therapies facilitate proper diagnosis and prompt treatment.