February 2023

Precision genomics, also known as personalized medicine, has revolutionized the way healthcare providers approach disease diagnosis and treatment. By leveraging the vast amounts of genetic data generated by genomic testing, precision genomics offers a tailored approach to health care, providing a more accurate understanding of a person’s risk of developing certain diseases and the most effective treatments for those conditions. However, the interpretation of genomic test results can be complex and challenging, requiring specialized knowledge and expertise, particularly in the realm of variant interpretation. What is Variant Interpretation? Variant interpretation is the systematic evaluation and categorization of genetic variations, based on their impact on health. This process takes into account the information generated through variant annotation, as well as data from scientific literature, gene databases, and other sources. Challenges in Variant Interpretation in Precision Genomics While precision genomics has the potential to greatly improve patient care, there are several challenges that must be overcome in order to fully realize its benefits. These challenges include: Overcoming the Challenges of Variant Interpretation Despite these challenges, the field of precision genomics continues to advance, with new tools and technologies being developed to help overcome these challenges. Some of the strategies being used to overcome these challenges include: In conclusion, while variant interpretation in precision genomics presents several challenges, the field continues to advance, and these challenges are being overcome through collaboration, standardization, data integration, and the use of cutting-edge technologies. Patients and healthcare providers must be aware of the importance of variant interpretation in precision genomics and seek the guidance of trained professionals when considering genomic testing and information. GeneSpectrum’s GeneAssure Clinical Genomics Suite deploys the latest methods to accurately interpret the variants. To know more, reach us at contact@genespectrum.in.

Clinical genomics is a rapidly evolving field that has the potential to revolutionize the way healthcare is delivered. With the advent of next-generation sequencing technologies, it is now possible to sequence an individual’s entire genome in a matter of days. This information can provide valuable insights into a person’s health, including their risk of developing certain diseases, how they will respond to certain medications, and their likelihood of passing on genetic conditions to their offspring. However, the interpretation of the vast amounts of data generated by these technologies is a complex and challenging task, and this is where variant interpretation comes in. What is variant interpretation? Variant interpretation is the process of evaluating and classifying genomic variations, also known as mutations or variants, to determine their impact on health. These variations can occur naturally or as a result of exposure to environmental factors such as pollutants or radiation. Some variants may have no impact on health, while others can lead to the development of serious conditions such as cancer or inherited genetic disorders. Why is variant interpretation important in clinical genomics? The interpretation of variants is critical in clinical genomics because it determines the information that can be extracted from an individual’s genome and how that information can be used to improve their health. For example, if a variant is classified as benign, it may not require any further action. However, if a variant is classified as being disease-causing, it may require follow-up testing or therapeutic interventions to manage the condition. Additionally, the interpretation of variants is also important for research purposes. By understanding the impact of different variants, researchers can gain new insights into the underlying mechanisms of disease and develop new treatments and diagnostic tools. How is variant interpretation performed? Variant interpretation is a multi-step process that involves the use of bioinformatics tools and databases, as well as the expertise of clinical geneticists and genetic counsellors. The first step is to identify all of the variants in an individual’s genome. This is followed by a process of filtering and prioritization, in which variants that are more likely to be disease-causing are identified and evaluated more closely. Next, the impact of each variant is assessed based on a variety of factors, including its frequency in the general population, its location within the genome, and the presence of any known mutations in related genes. This information is then compared to data from the scientific literature, gene databases, and other sources to determine the variant’s significance. Finally, the variant is classified based on its impact on health. Variants can be classified as benign, likely benign, uncertain significance, likely pathogenic, or pathogenic. This information is then used to inform clinical decision-making and management of the patient’s health. In conclusion, variant interpretation is a critical aspect of clinical genomics and plays a crucial role in improving the health of individuals by providing actionable information about their genetic makeup. It is important for healthcare professionals to be aware of the importance of variant interpretation and to seek out the expertise of trained specialists when considering genetic testing and genomic information. GeneSpectrum’s GeneAssure Clinical NGS Suite provides accurate and up-to-date variant annotation and interpretation following the best practices. We have integrated ACMG guidelines to classify variants. To know more about our variant annotation and interpretation service, reach out to us at contact@genespectrum.in.

Cancer is a leading cause of death worldwide and genetic testing has become a crucial tool in its diagnosis, treatment, and management. With advances in technology and a better understanding of the human genome, genetic testing is now available to a wider range of individuals. In this article, we will explore the different types of genetic testing, the role of genetic testing in cancer, and the potential benefits and limitations of testing. What is Genetic Testing for Cancer? Genetic testing is a process that involves analyzing an individual’s DNA to determine if they have a genetic mutation that increases their risk of developing cancer. There are different types of genetic tests including carrier testing, predictive testing, and diagnostic testing. Carrier testing determines if an individual carries a genetic mutation that could be passed on to their offspring, predictive testing determines an individual’s risk of developing cancer based on the presence of specific genetic mutations, and diagnostic testing is used to determine the presence of a genetic mutation in individuals who have already been diagnosed with cancer. Examples of Cancer-Causing Genetic Mutations BRCA1 and BRCA2 are two of the most well-known genetic mutations that can increase the risk of cancer. These genes are associated with an increased risk of developing breast and ovarian cancers, and carriers of BRCA1 and BRCA2 mutations have up to an 85% lifetime risk of developing breast cancer and up to a 50% lifetime risk of developing ovarian cancer. Lynch syndrome is another genetic mutation that increases the risk of several types of cancer, including colorectal, endometrial, gastric, pancreatic, and ovarian cancers. The Role of Genetic Testing in Cancer Diagnosis and Treatment In addition to identifying individuals who have an increased risk of developing cancer, genetic testing can also play a crucial role in the diagnosis and treatment of cancer. Genetic testing can be used to identify specific genetic mutations in individuals with cancer, which can help guide treatment decisions. Some cancer treatments, such as targeted therapies, are designed to target specific genetic mutations, and genetic testing can help determine if an individual is a candidate for these treatments. Potential Benefits and Limitations of Genetic Testing for Cancer The interpretation of genetic test results is one of the main challenges associated with genetic testing. Some genetic mutations can be benign and do not increase the risk of cancer, while others can increase the risk of cancer but not necessarily cause the disease. Additionally, the significance of some genetic mutations is not yet fully understood, and more research is needed to determine the impact of these mutations on cancer risk. The psychological impact of genetic testing is another potential limitation. Genetic testing can be a source of significant stress and anxiety, especially if the results are positive. This is why it is important for individuals who are considering genetic testing to be well-informed about the potential benefits and limitations of testing, and to have access to genetic counselling and support. Conclusion Genetic testing plays an important role in the diagnosis, treatment, and management of cancer. Genetic testing can help identify individuals who have an increased risk of developing cancer, guide treatment decisions, and inform individuals about the potential risk of cancer in their families. However, genetic testing is not without its limitations, and individuals who are considering testing should be well-informed about the potential benefits and limitations of testing and have access to genetic counselling and support. If you are considering genetic testing for cancer, it is important to speak with a healthcare professional and a genetic counsellor to determine if testing is right for you. With the right information and support, genetic testing can be a valuable tool in the fight against cancer. GeneSpectrum Life Sciences is bringing accurate analysis of variants with our curated database of genomic variants and reproducible analysis workflows. To know more about our offering for cancer genetic testing, please reach out to us at contact@genespectrum.in