Genetic Cardiomyopathies Market Trends

Growth Drivers

• Growing Need for Early Screening– Unless early screening criteria are satisfied, current guidelines of the American College of Cardiology recommend starting family screening for hypertrophic cardiomyopathy (HCM) after the age of 10 or 12 years. The researchers wanted to see if existing screening guidelines missed early-onset illness. Patients and families benefit from a multidisciplinary approach to clinical genetic screening for cardiomyopathies that includes genetic counselling as well as clinical genetic testing. Patients with hereditary cardiomyopathy can begin guideline-directed medical therapy earlier, increasing their chances of improving predictions and health results.

• Rising Development in Genetic Testing – Recent developments in sequencing technology have enabled wide genetic testing on an individual patient basis within clinically meaningful timeframes, using exome and genome sequencing. Exome tests sequence the whole protein-coding portion of the genome, which accounts for less than 2% of the genome but contains around 85% of known disease-causing variations, whereas genome sequencing not only includes the exome but also all non-protein-coding DNA. Initially, similar tests were used in clinical research investigations such as the Deciphering Developmental Disorders project, but exome sequencing has lately been used as a clinical diagnostic test. Initially, similar tests were used in clinical research investigations such as the Deciphering Developmental Disorders project, but exome sequencing has lately been used as a clinical diagnostic test.

• Growing Emergence of Novel Therapies– Since there are complications such as the variability of human pathogenic variations, gene and transcript sizes, and other criteria that affect practicality, a variety of alternative molecular techniques have been created to address these issues in genetic cardiomyopathies. A few of the emerging novel therapies for hypertrophic cardiomyopathy and dilated cardiomyopathy are, exon skipping, siRNA, gern line CRISPR, trans-splicing, SERCA gene therapy, and translational read-through of stop colons. Several decades of research have shed light on the exact nature of genetic pathogenesis in many patients with these conditions, leading to novel discoveries into the molecular pathways by which pathogenic variations cause cardiomyopathies. These advancements raise the promise of new medicines that directly target gene variations or the disease-mediating proximal downstream pathways.

Challenges

• Privacy Concerns about the Genetic Information of an Individual- Genetic testing raises moral issues about the privacy and security of an individual's genetic information. Ambiguity regarding how the data has been shared and handled is deterring some individuals from getting them diagnosed and treated. Moreover, the integration of digital health and the use of electronic health records further imposes a threat to the data, as digital security can be easily breached by hackers. Genetic testing entails the collecting of very sensitive personal information, such as a person's genetic code, therefore security should be of utmost importance in this respect.

• Low Awareness about the Disorder among the Common People

• High Cost of the Treatment and Diagnosis