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• Rare Disease Genomics

The realm of rare diseases is vast and intricate. With over 7,000 known rare diseases and more unearthed each year, they silently affect over 150 million people worldwide, constituting 2–6% of the population. This hidden burden demands attention, innovative approaches, and collaboration.

CD Genomics hinges on the remarkable potential of advanced genomic sequencing technologies, including WGS, WES and targeted sequencing. Through the lens of genomics, we're shining a light on the darkest corners of rare diseases, offering hope, clarity, and a path forward.

The Value of Genomics for Rare Disease Research

Genomics equips researchers with a powerful lens to peer into the intricate genetic architecture underlying rare diseases. This level of precision extends far beyond traditional approaches, enabling us to identify and analyze variations at the molecular level. Such insights have the potential to unlock the secrets of these conditions, offering a deeper understanding of their origins and mechanisms.

For patients and families caught in the labyrinth of undiagnosed conditions, genomics shines a beacon of hope. Advanced sequencing technologies, such as Whole Genome Sequencing (WGS) and Targeted Sequencing, unravel genetic mysteries that have long eluded detection. These breakthroughs facilitate more accurate diagnoses, putting an end to the diagnostic odyssey that many have endured.

CD Genomics Rare Disease Genomics Solution

Whole-Genome Sequencing (WGS)

In numerous studies, whole-genome sequencing (WGS) consistently demonstrates the highest diagnostic yield among all methods. WGS provides broad coverage of the genome, typically over 97%, allowing it to detect a wide range of variant types. These include single nucleotide variants, indels, structural variants, copy number variants, repeat expansions, mitochondrial variants, and paralogs. The comprehensive nature of WGS contributes to its diagnostic success in identifying the genetic basis of rare diseases.

Whole-Exome Sequencing (WES)

Whole-exome sequencing (WES) follows WGS in terms of diagnostic yield. While WES covers a smaller portion of the genome (approximately 1.5%), it is still highly effective in detecting various types of genetic variants. Compared to WGS, WES is more cost-effective and often has better rates of reimbursement, making it a practical choice for diagnosing rare diseases.

Targeted Sequencing – NGS Panel Solution

Targeted sequencing focuses on specific genes known to be associated with a particular rare disease. However, its coverage is limited, with the largest panels covering less than 0.5% of the entire genome. Targeted sequencing is advantageous when the suspected genetic variants are concentrated within these specific genes. It can offer a more cost-effective and efficient option for cases where the disease-causing genes are well-established.

The Benefits of Rare Disease Genomics

• Tailored Disease Management: Understanding the intricate mechanisms of rare diseases empowers physicians to provide precise care. By unraveling the genetic underpinnings, patients can be referred to specialists with expertise in their specific condition. This tailored approach paves the way for personalized therapeutics and disease-specific follow-up strategies.
• Reduced Expenses: Genomic diagnoses for rare diseases present an opportunity to bypass prolonged diagnostic journeys. By sidestepping the arduous and costly diagnostic odysseys, patients can avoid unnecessary tests, procedures, and referrals. This not only saves financial resources but also alleviates the emotional and physical toll on families.
• Reproductive Counseling: For families facing rare genetic conditions, understanding the inheritance patterns is of paramount importance. Genomic insights enable informed reproductive planning by elucidating recurrence risks for both immediate and extended family members. This knowledge empowers families to make choices that align with their values and aspirations.
• Psychosocial Benefits: Receiving a molecular diagnosis for a rare disease brings about more than medical clarity; it fosters a sense of unity and belonging. The shared journey of diagnosis unites affected families, creating a supportive community within rare disease support groups. These connections provide not just solace but also a platform for shared experiences and knowledge.
• Societal Advancements: The ramifications of rare disease genomics extend to society at large. By deciphering the genomics of rare diseases, new drug targets can be identified, paving the way for innovative therapies. Moreover, insights gained from genomics enhance the efficiency of healthcare delivery, benefitting the broader population and optimizing patient care pathways.

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