Praachi K Verma

FEBRUARY 2020 TRUGENY Trugeny Monthly Newsletter Special By: Praachi Verma Discover Why Finding The Accurate Genetic Information Is Critical to Your Patient’s Health We know how unique each person is (all thanks to their distinct DNA TABLE OF CONTENTS fingerprints), but we also understand how distinctly each disease presents itself in different individuals. Every patient that walks in your office has an exclusive story to tell, be it the novel and bizarre symptoms they share or WHY CHOOSE TRUGENY the complicated clinical findings their test results show. But, when it comes to patients’ health, the doctors strive relentlessly to achieve the best ONCOLOGY results. Why Choose Trugeny CARDIOVASCULAR The future of medicine is in patient-centered care, and incorporating DISORDERS genomics into your practice will enhance your efforts to improve patient care. With Trugeny’s genetic expertise you can transform the age-old medicine practices with: PRENATAL GENETIC Early and accurate diagnosis of inherited conditions. TESTING Effectively compare the various treatment options to improve the quality of PHARMACOGENETICS Improve the treatment outcome and reduce its adverse effects by GENETIC COUNSELLING your patients’ life. employing the science of pharmacogenomics. We always bear in mind that when it comes to determining a patient’s health, accuracy and quality is the key. We thrive to deliver appropriate and clinically useful results with robust details. Our customized genetic reports are analyzed by a team of experts to accurately interpret the complicated findings to provide clear results you can trust. Our accurate results help you to make informed and sophisticated treatment decisions with your patients. Let’s discover how genetic clues revolutionize patients’ care. TRUGENY PAGE 1 Cardiovascular Disorders Knowing the hereditary cardiovascular risks of your FEBRUARY 2020 patient can help you to plan an effective and dynamic medical management of their condition. Many acute cardiomyopathies are often asymptomatic and fatal. Hence, genetic testing acts as a preferred way to identify the risks and confirm the diagnosis of cardiovascular conditions, arrhythmia, and inherited cardiomyopathy. Why is early detection of cardiovascular risks important for clinicians? To diagnose or identify the patients’ risk of cardiac arrest. Oncology To modify or start a preventive treatment plan to Trugeny’s specialized tests are designed to accurately avoid estimate the individual’s risk of developing certain cancer potential complications. types Identifying To identify the risk of genetic mutation in the patients with genetic risks of cancer allows you to take family and provide medical care to those who preemptive actions to significantly decrease the cancer risk need it. and improve their survival rates. To minimize the healthcare cost and patients’ by using their genetic information. the risk of cardiac arrest and other apprehension associated with the illness. Why is early detection of cancer important for clinicians? When to suggest a genetic test? You get an option to revise the frequency and schedule The clinical findings &/or family history suggests the cancer screening a strong suspicion for cardiovascular disorders You get a chance to consider various treatment options like to reduce the risk Identify at-risk family members and the familial hypercholesterolemia, etc. risk of other cancers in the patient Clinical findings are suggestive of syndromes You get options to customize the treatment plan (e.g. associated with cardiovascular diseases (like PARP Inhibitors for prostate cancer). Noonan syndrome, Marfan syndrome, etc). inherited arrhythmia, cardiomyopathy, A family history of sudden cardiac arrest or When to suggest a genetic test? death. Suspicion of hereditary cancer i.e. when 3 or more close Prolongation of QT interval in an otherwise family members have a history of cancer. asymptomatic patient. Known gene mutation in the family (Like BRCA 1 or Persistently high levels of cholesterol in children BRCA 2). and adults, without a known secondary cause. Ashkenazi Jews descendant Presence of multiple primary tumors in the patient A genetic test with Trugeny is a simple and efficient way to screen, diagnose, and treat various With Trugeny’s advanced technology you can receive a inherited cardiovascular disorders. Knowing your comprehensive report to identify the individual’s risk of patients’ cardiovascular risks in advance helps you many types of inherited cancers like prostate cancer, towards breast cancer, ovarian cancer, colorectal cancer, etc. condition.. TRUGENY guided medical management of PAGE 2 their FEBRUARY 2020 Prenatal Genetic Testing Prenatal genetic tests give the parents a choice to identify their risk of having a baby with a chromosomal anomaly, subchromosomal defects, and disorders like preeclampsia. Continuous support of the health professional is necessary for these parents throughout the decision-making process thereafter. Risk factors for prenatal screening The chances of chromosomal aneuploidy increase with maternal age. A family history of chromosomal abnormality. Abnormal ultrasound findings Women with a previous pregnancy affected by trisomies A prenatal genetic test with Trugeny has an excellent screening accuracy. An early and accurate result reduces the chances of miscarriage associated with false-positive results from the conventional prenatal screening methods. There are hundreds of inherited genetic conditions, but a majority of children born with such conditions are born in families with no other affected family members. This occurs because a healthy couple can act as a carrier of those defective genes. Both autosomal recessive and X-linked inheritance can lead a healthy couple to inherit a serious genetic condition to their offspring. Though carrier screening can be performed anytime, it is preferred to screen the couples before they conceive to understand and consider the various reproductive options. Thalassemia, spinal muscular atrophy, cystic fibrosis, Tay Sachs disease, and fragile X syndrome are some of the common conditions that require a carrier screening. Pharmacogenetics Pharmacogenetics has the potential to improve the treatment outcome by selecting an appropriate drug and its optimal dosage to maximize its efficacy. It thus allows clinicians to provide precision therapy to their patients. Pharmacogenetics tests for variations in genes that are responsible for drug transport, metabolism, and targets of action. The science of pharmacogenomics applies to virtually every medical field and specialty. Pharmacogenetics does not believe in one size fits all dosing, instead, it helps to individualize the therapeutic experience of the patient with biometric-based dosing and precision prescription of drugs. Pharmacogenetics allows the tailored dosing of a drug, based on the genetically determined metabolic potential of the patient. Pharmacogenetics also aids in chemotherapy by preventing under or overtreatment. Genotypeguided dosing also helps to reduce the toxicity associated with the therapy. TRUGENY PAGE 3 FEBRUARY 2020 Genetic Counselling Undergoing a genetic test is important, but understanding the comprehensive results and the test consequences are an integral part of genetic testing. With our team of genetic experts, Trugeny aims to provide genetic counseling services with unparalleled quality. Our goal is to provide a customized interpretation of clinical reports to help the clinicians and patients decide the best healthcare plan as per their needs. How Trugeny genetic counseling helps? A genetic counseling helps the individual or the family: Understand the medical facts of the test results Appreciate the role of heredity and the associated risk of disease recurrence in specified relatives. To use the genetic information to promote health, increase personal control, modify lifestyle, and minimize psychological distress. To efficiently deal with the risk of recurrence.Plan the appropriate course of action given the predicted risk. Sometimes, the emotional impact of a genetic test result is severe and an appropriate discussion with multiple follow-up sessions is necessary to prepare and encourage the patient towards the best treatment strategy. Who needs genetic counseling? Genetic counselling is advisable for every individual undergoing a genetic test. If an inherited condition runs in the family. Pregnant couples If a prenatal genetic test reveals an abnormality in the fetus. Couples who want to conceive but are related by blood.If a pregnant woman was exposed to chemical and environmental agents. Genetic counseling aims to increase the patients’ understanding of their genetic condition. With clear and detailed information and constant support guides the patient to make informed decisions. “Finding out early and accurate information can add years to your patients’ life.” TRUGENY PAGE 4