Why should I have a genetic test if I have been diagnosed with, or am suspected of having, a heritable condition?
Heritable conditions are caused by mutations, or changes in the DNA of certain genes in your body. Genetic testing is a diagnostic tool that can help identify the disease-causing change in your DNA, and is becoming a standard diagnostic procedure in several fields of medicine. The reasons for choosing genetic testing have become more important in individual health management over the years, and several international medical organizations now recommend it. Here are some reasons to choose genetic testing:
- Confirmation of diagnosis
Genetic conditions often have observable traits – changes to your body that may cause symptoms. Many medical conditions may share identical or similar traits/symptoms. In these cases, a genetic diagnosis can help confirm if a condition is caused by a specific gene change. It could even alter your current clinical diagnosis. An accurate diagnosis with the help of genetic testing allows your physician to find the best care and management plan for you.
- Testing other family members at risk
If a condition has a genetic cause, there is a higher chance of passing on the genetic change to your children. Your siblings and parents could also have the same change and be affected by the condition. Knowing that the cause of your condition is genetic allows your physician to identify risks to other family members, and provides a solid basis for clinical follow-up and preventative actions for affected family members. Genetic diagnosis may also help increase the lifespan and improve quality of life for other family members who were unaware they were at risk for a genetic condition.
- Personalized treatment and management
With a genetic diagnosis, your physician can identify and evaluate your risks. It can help in fine-tuning your treatment and follow-up care.
A genetic diagnosis means accurate genetic counseling for you and allows your physician to estimate recurrence in your family.
Genetic testing can also tell you that you do not have the genetic change/ mutation causing the condition in your family. This information may determine that no further clinical follow up is needed for you
We offer comprehensive genetic diagnostics for hereditary pulmonary diseases, including nonsyndromic presentations, and a number of syndromes in which pulmonary symptoms occur with systemic diseases. Genetic testing for pulmonology Pulmonary diseases have high genetic heterogeneity with significant phenotypic overlap.
Given the great number of genes and mutations underlying hereditary pulmonary diseases, NGS and multi-gene panels are often cost-effective primary options for genetic diagnostics for these diseases. What genetic diagnostics can offer patients with pulmonological diseases Genetic diagnostics are often the most efficient way to subtype hereditary pulmonary diseases, and they provide the necessary information to make confident individualized treatment and management decisions.
Specifically, variation in the CFTR gene that causes cystic fibrosis, is targeted in this category. Screening may enable targeted, genotype specific therapies to improve CFTR function possible, as recommended by a recent publication (PMID: 26403534). In addition to cystic fibrosis, determining the exact underlying genetic defect in any hereditary pulmonary disease heavily affects genetic counseling and risk assessment. Another example of the utility of genetic testing in hereditary pulmonary diseases is shown through primary ciliary dyskinesia (PCD) cases. PCD is a genetic disorder affecting the function of motile cilia. Clinically, PCD may present with neonatal respiratory distress, chronic coughing, and recurrent sinus or ear infections. In 15–50% of PCD cases, some or even all major visceral organs are reversed from their normal positions – the partial form called situs ambiguous/heterotaxy, and the complete form situs inversus.
Genetic diagnosis helps in understanding a patient’s symptomology, and testing will differentiate it from cystic fibrosis, which may mimic the clinical presentation of PCD. Identifying at-risk family members makes it possible to begin preventive treatments and/or make lifestyle recommendations.
It also justifies routine follow-ups by health care professionals. Genetic diagnostics can help in family planning.