Genetic testing is an effective method that can
indicate a person’s tendency to certain diseases. Genetic testing involves the
use of DNA to detect changes or mutations, that might lead to certain diseases.
In the area of preventive medicine, this technology is extremely useful for
early detection of genetic-related disorders. In this post you will find all
the diseases that can be detected with the use of genetic testing:
1. Cystic Fibrosis (CF)
Cystic fibrosis is an inherited disorder resulting from
mutations in the CFTR gene, with respiratory and gastrointestinal
manifestations resulting in chronic infections and malabsorption. Genetic
testing can identify carriers of the CFTR mutation and confirm diagnoses in
symptomatic individuals, thus enabling early intervention and management to
improve symptoms.
2. Sickle Cell Disease
Sickle cell disease is caused by a genetic disorder where a
person’s HBB gene is changed which affects the form of red blood cells. These
cells lead to anemia, pain, and perhaps organ toxicity. Carrier testing is
available as well as newborn screening, so early intervention is possible with
medications, blood transfusions, or bone marrow transplantation.
3. Cardiovascular Diseases
These molecular diagnostic tests detect mutations in genes
associated with inherited cardiovascular diseases including hypertrophic
cardiomyopathy, long QT syndrome, and familial hypercholesterolemia. Its
identification in the initial stages enables the patient to change their
lifestyle and attend screening tests as well as take medications that reduce
risks such as a heart attack or sudden cardiac arrest.
4. Neurological Disorders
Most neurological diseases like Huntington's disease,
Alzheimer's disease, and Parkinson's disease have genetic causes. From
mutations in HTT, APP, PSEN1, and LRRK2 genes, a person can develop these
disorders. Genetic testing will help one know his or her risk and early
monitoring and participation in clinical trials may be possible.
5. Tay-Sachs Disease
Tay-Sachs disease is a fatal disorder caused by the mutation
of the HEXA gene. The consequence of this disease is the death of nerve cells
in the brain and spinal cord mostly affecting babies. Preconception genetic
testing aims to identify the reproductive risks of the carrier, which is
particularly useful in high-risk populations.
6. Down Syndrome
Down syndrome is caused by the presence of an additional
21st chromosome (trisomy 21). Diagnostic techniques such as amniocentesis and
NIPT place the expectant parents in a better position by informing them of
chromosomal disorders.
7. Duchenne Muscular Dystrophy (DMD)
This genetic disorder capitalizes on the mutations of the
DMD gene in causing severe muscle wasting. A genetic test could confirm
diagnosis and carrier status hence early detection so that therapies could be
provided against disease progression and better patient outcomes.
8. Age-Related Macular Degeneration (AMD)
AMD is attributed to variations in genes such as ARMS2 and
CFH among others. Genetic testing would help identify individuals at risk and subsequently help them take preventive
measures, such as lifestyle changes or regular eye exams.
9. Bipolar disorder
Bipolar disorder is attributed to more complex genetics. However,
if many genes are analyzed and their interactions are assessed, it is possible
to detect preconditions. This leads to the early detection of the disease and
appropriate treatment employing the use of drugs and counseling.
10. Breast and ovarian cancer
BRCA1 and BRCA2 mutations significantly increase the risk
of breast cancer and cancer of the ovary. Testing for genetic conditions that
are identifiable through these mutations empowers individuals to take
preventive measures such as increased screening or preventative surgery.
11. Cancer (Other Types)
Genetic testing is vital when screening for mutations that
are associated with certain cancers, for instance, colorectal cancer associated
with MLH1, MSH2 mutations and Melanoma associated with CDKN2A mutations. The
aim of this study hence is to develop an early detection method that can inform
better and more targeted therapeutic interventions with improved prognoses.
12. Dyslexia
Dyslexia is a learning disorder that affects one’s reading
ability and sometimes writing as well, it has a genetic aspect to it. There is
no gene that confers the risk on its own, although genetic testing aids in
determining the raised risk genes. Education interventions can begin right away
as soon as the child is diagnosed.
13. Obesity
Some of the genes include FTO and MC4R which can be mutated
to detect tendencies towards obesity. It helps individuals to understand these
risks to take preventive measures such as diets and exercise regimens.
14. Psoriasis
Psoriasis is an autoimmune pathology that includes genetic
predispositions in relation to the HLA-C gene. Genetic testing helps determine
the risk and therefore the patient should take medication or make certain
changes to their lifestyle early enough.
15. Von Willebrand Disease
A bleeding disorder known as Von Willebrand disease is a
result of mutations in the VWF gene. Lab tests, particularly genetic testing,
can help to either affirm this diagnosis and, if needed, direct therapy by
changing missing clotting aspects or drugs.
16. Albinism
Skin, hair, and eye pigmentation loss is due to a mutation
in genes such as TYR and OCA2, and results in albinism. Carrier testing
provides healthcare practitioners with tools for diagnosing disease carriers,
and there are expert solutions in genetic counseling for family planning.
17. Autoinflammatory Disorders
In this testing, it is designed to detect different types of
mutations in genes like MEFV and NLRP3 found in conditions like familial
Mediterranean fever and perhaps, some cryopyrin-associated periodic syndromes.
Early identification leads to effective anti-inflammatory management.
18. Cervical Cancer
Although cervical cancer is highly associated with human
papillomavirus (HPV), family history can also play a role in determining its
vulnerability. Genetic testing reveals potential high-risk HPV or hereditary
threatening factors that may demand vaccination or follow-up tests such as Pap
smears.
19. Endocrine Diseases
Some genetic tests identify diseases within the endocrine
system for example congenital adrenal hyperplasia which is caused by CYP21A2
mutation or multiple endocrine neoplasia caused by RET gene. This gives a
chance for hormonal-sensitive therapy and tumor surveillance.
20. Gastrointestinal Disorders
Hereditary pancreatitis is another condition associated with
mutations in PRSS1 and Crohn’s disease which has a connection with NOD2
mutations. It assists in the early identification of these disorders so as to
ensure that patients receive the right course of management.
21. Genetic Disorders (Broad Category)
Many genetic disorders for instance Marfan syndrome due to
mutations in the FBN1 gene, fragile X syndrome due to mutations in the FMR1 gene
and phenylketonuria due to mutation in the PAH gene can be detected using gene
testing. An early diagnosis allows preventive measures to be taken in other to
prevent severity and treatment to be commenced with improved chances of
positive outcomes.
Conclusion
With genetic testing, individuals can get information about
various diseases they are susceptible to developing including inherited
diseases such as cystic fibrosis and sickle cell anemia, complicated diseases
such as cancer and neurological diseases. As much as genetics poses certain
threats, early identification of genetic susceptibilities assists people
respond to diseases in suitable manner. As genetic testing advances, so
does its use in tailored approaches to disease and focused preventive care, enhancing the quality of lives across the
globe.
