In the field of genetics and personalized genomics, we're amidst an astounding wave of progress, driven by remarkable progress in DNA sequencing technology and the rise of advanced computational tools for deciphering genomic data. In a recent interview, Dr Pratibha Singh, Co-Founder and Head of Discovery and Innovations at Aanavik Biosciences, discussed with Muhammad Younis the groundbreaking potential of these new advancements and their profound implications for healthcare.
#LBS: How has the field of genetics and personalized genomics evolved over the past decade, and what significant advancements or breakthroughs have you found particularly noteworthy?
Dr Pratibha: The field of genetics and personalized genomics has undergone rapid evolution in the last decade, primarily due to advancements in DNA sequencing technology and the emergence of sophisticated computational tools for analyzing genomic data. These advancements have led to numerous noteworthy breakthroughs:
• Whole-genome sequencing (WGS) and whole-exome sequencing (WES): These cutting-edge technologies have enabled the sequencing of an individual's entire genome or specific parts thereof. This paradigm shift has substantially improved our capacity to diagnose genetic disorders, pinpoint mutations causing cancer, and create tailored treatment strategies.
• Identification of new disease-related genetic variants: Through studies utilizing WGS and WES, a plethora of previously undiscovered genetic variants linked to various diseases, such as cancer, heart ailments, and neurodegenerative disorders, have been unveiled. This wealth of information is instrumental in the development of novel diagnostic tests and precision therapies.
• Advancements in gene editing technologies: Revolutionary tools like CRISPR-Cas9 and other gene editing methodologies have empowered scientists to make meticulous alterations to living cells' DNA. This breakthrough has ushered in a new era of potential treatments for genetic disorders and innovative therapeutic avenues.
• Elevation of personalized medicine: Personalized medicine leverages genetic insights to tailor treatment plans according to each patient's unique requirements. Already being implemented in guiding the treatment of certain cancers and diseases, its utilization is poised to expand significantly in the future.
Notable breakthroughs that warrant attention include:
• Non-invasive prenatal testing (NIPT): NIPT, a blood test capable of screening for genetic disorders in a fetus as early as 10 weeks into pregnancy, has notably reduced the necessity for invasive prenatal tests like amniocentesis and chorionic villus sampling (CVS), which carry a small risk of miscarriage.
• Discovery of novel cancer-causing genes and mutations: Studies utilizing WGS and WES on cancer patients have unearthed hundreds of fresh genes and mutations contributing to cancer development. This knowledge is pivotal in crafting improved diagnostic tools and targeted therapies for combating cancer.
• Development of gene editing therapies for genetic disorders: Utilizing CRISPR-Cas9 and similar technologies, researchers are actively developing novel therapies for various genetic disorders such as sickle cell anaemia, beta-thalassemia, and Duchenne muscular dystrophy. Though still in nascent stages, these therapies hold immense promise in revolutionizing the treatment landscape for numerous genetic disorders.
#LBS: In your opinion, what are the most pressing challenges currently facing the field of personalized genomics, and how do you believe these challenges can be addressed?
Dr Pratibha: Genomic sequencing and analysis have undergone substantial cost reductions in recent years, yet accessibility remains a barrier for many due to its lingering expense. Moreover, the intricate nature of genomic data poses challenges in interpretation, even with cutting-edge computational tools, particularly in assessing the clinical relevance of numerous genetic variants.
Integration of this complex data into clinical practice requires enhanced methods. This involves creating tools and resources aiding clinicians in deciphering genomic data and making informed decisions concerning patient care.
The emergence of personalized genomics also brings forth ethical, legal, and societal concerns. These encompass issues like safeguarding the privacy and security of genetic data, preventing genetic discrimination, and ensuring equitable access to the benefits of personalized medicine.
Mitigating these challenges requires a multifaceted approach:
• Continued Research and Development: Ongoing investment in research is pivotal to further cost reductions in genomic sequencing and analysis. It aims to enhance data interpretation while furnishing clinicians with advanced tools and resources.
• Education and Training: Equipping healthcare professionals with expertise in personalized genomics is crucial. This involves tailored education through continuous learning, professional development initiatives, and integrating relevant topics into academic curricula.
• Public Engagement: Engaging the public in discussions about the ethical, legal, and societal implications of personalized genomics is imperative. This necessitates public education initiatives, interactive forums like town hall meetings, and outreach programs to facilitate informed understanding and participation.
Additionally, establishing comprehensive policies and regulations is vital to safeguard genetic data privacy, uphold security standards, and prevent any form of genetic discrimination.
Effectively addressing these challenges is pivotal for unlocking the full potential of personalized genomics in advancing human health and overall well-being.
#LBS: Could you describe a recent project or study in genetics or personalized genomics that you believe has the potential to transform healthcare or our understanding of human genetics?
Dr Pratibha: One recent groundbreaking initiative in personalized genomics that holds immense promise in reshaping healthcare and our comprehension of human genetics is the All of Us Research Program. This National Institutes of Health (NIH)-funded endeavour aims to enlist over a million diverse participants, gathering their health data, including genomic information, for a national research repository. This reservoir will serve as a vital resource for studying the interplay between genetic and environmental factors contributing to a broad spectrum of diseases and conditions.
The potential impact of the All of Us Research Program on healthcare is multifaceted. Firstly, it's poised to deepen our understanding of disease's genetic foundations, potentially spawning novel, more efficient diagnostic tests and treatments. Secondly, it seeks to uncover environmental influencers on disease, fostering the development of preventive strategies. Lastly, it aspires to craft tailored approaches in personalized medicine, customizing interventions to match individual patient needs.
Another noteworthy endeavour is the Deciphering Developmental Disorders (DDD) study, funded by the Wellcome Sanger Institute and the National Institute for Health Research (NIHR). This initiative involves sequencing the genomes of over 11,000 children grappling with severe developmental disorders. The study's aim is twofold: to pinpoint the genetic roots of these conditions and to forge new paths in diagnostic testing and treatment.
The strides made by the DDD study are evident, having identified genetic origins for over 500 previously unknown developmental disorders. This newfound knowledge is already shaping diagnostic avenues and personalized treatment plans for affected families.
The All of Us Research Program and the DDD study stand as exemplars of pioneering research in personalized genomics, poised to transform healthcare and genetic understanding. Additionally, other recent projects bear equal significance:
• Advancements in gene editing technologies, like CRISPR-Cas9, herald new prospects for treating genetic ailments and devising innovative therapies.
• Utilization of machine learning and artificial intelligence in analyzing genomic data augments our comprehension of disease genetics, aiding in the development of advanced diagnostic tools and treatments.
• The emergence of new non-invasive prenatal tests mitigates the risk associated with invasive procedures like amniocentesis and chorionic villus sampling (CVS), lessening the likelihood of miscarriage.
• Leveraging genomic data for personalized cancer treatments enhances patient outcomes and elevates survival rates in cancer care.
These examples spotlight recent strides in genetics and personalized genomics, foreshadowing a trajectory of further transformative breakthroughs as the field continues its evolution.
#LBS: What emerging technologies or methodologies do you see as having the most significant impact on the field in the coming years, and how do you think they will shape the future of personalized medicine and patient care?
Dr Pratibha: I foresee the imminent impact of several emerging technologies and methodologies that are set to significantly influence the domain of personalized medicine in the forthcoming years:
• Artificial Intelligence (AI) and Machine Learning (ML): AI and ML algorithms are already instrumental in parsing genomic data and pinpointing disease-linked genetic variants. As these technologies advance, their role in personalized medicine is expected to expand further. We anticipate AI and ML driving the development of novel diagnostic tests, predicting patients' disease risks, and tailoring treatment plans.
• Gene Editing: Technologies like CRISPR-Cas9 hold immense promise in transforming the treatment landscape for genetic disorders. Gene editing could rectify diseasecausing genetic mutations or introduce protective genes. Although still in early developmental stages, gene editing stands poised to revolutionize personalized medicine shortly.
• Single-cell Sequencing: Advancements in single-cell sequencing allow us to explore individual cell genomes, enriching our understanding of genetic diversity within tissues and tumors. This technology might lead to novel diagnostic tools, identification of fresh drug targets, and monitoring treatment responses in individual patients.
• Liquid Biopsies: Non-invasive liquid biopsies detect cancer cells or genetic mutations in bodily fluids like blood. Their growing popularity in cancer screening and monitoring holds promise. As they become more precise, they could spawn new diagnostic tests and enable treatment monitoring across a broader spectrum of diseases.
These emerging technologies and methodologies stand poised to revolutionize personalized medicine, rendering it more precise, efficient, and accessible for patients. For instance, AI and ML could catalyze the development of more sensitive and specific diagnostic tests. Gene editing might unlock new treatments for presently incurable genetic disorders. Single-cell sequencing could deepen our grasp of disease genetics, paving the way for personalized treatment strategies. Moreover, liquid biopsies could herald non-invasive tests for diverse diseases, facilitating earlier detection and improved patient outcomes.
In essence, the future of personalized medicine appears exceedingly promising. The advent of these technologies and methodologies holds the transformative potential to redefine disease diagnosis and treatment. By enhancing the accuracy, efficiency, and accessibility of personalized medicine, we stand poised to positively impact the lives of countless patients worldwide.
#LBS: How do you envision the role of genetic counselors, researchers, and healthcare professionals evolving in the context of personalized genomics, and what skills and knowledge will be essential for professionals in this field in the future?
Dr Pratibha: I anticipate the evolving roles of genetic counselors, researchers, and healthcare professionals in the realm of personalized genomics:
• Genetic Counselors: Their role in aiding patients to comprehend their genetic risk and make informed healthcare decisions remains critical. Looking ahead, they'll need enhanced familiarity with cutting-edge genomic technologies and data interpretation. Effective communication of intricate genomic information to patients in a clear, concise manner will be imperative.
• Researchers: Their pivotal contribution to advancing personalized genomics involves developing novel genomic technologies, uncovering new disease-associated genetic variations, and forging fresh diagnostic tests and therapies. Future collaboration with clinicians and genetic counselors will be essential to effectively translate research into clinical practice.
• Healthcare Professionals: To offer optimal patient care, healthcare professionals must deepen their knowledge of personalized genomics. This encompasses grasping fundamental genetics, interpreting genomic data, and employing this information to make informed decisions in patient care. Integrating personalized genomics into their daily practice will be crucial moving forward.
Vital skills and knowledge for professionals in this domain:
• Genetics and Genomics Knowledge: A robust understanding of genetic fundamentals, DNA structure, inheritance patterns, and disease genetics will be pivotal.
• Genomic Data Interpretation: Proficiency in deciphering genomic data, identifying genetic variants, assessing their relevance, and comprehending their impact on patient health will be essential.
• Communication Skills: The ability to articulate complex genomic details clearly and succinctly to patients and peers in the healthcare domain.
• Integration of Personalized Genomics: Proficiency in using genomic insights to inform patient diagnosis and treatment decisions within routine clinical practice.
Moreover, adaptability and openness to change will be crucial traits. The dynamic nature of personalized genomics demands professionals to stay abreast of the latest advancements and be receptive to embracing novel approaches to patient care.
I firmly believe that genetic counselors, researchers, and healthcare professionals all hold pivotal roles in shaping the future of personalized genomics. Through collaborative efforts, we can strive to make personalized medicine accessible to all patients.
#LBS: How do you perceive the significance and potential impact of events like the London Biotechnology Show 2024, which are designed to advance the development and accessibility of biotechnology solutions?
Dr Pratibha: The London Biotechnology Show 2024 represents a pivotal moment with the potential to profoundly influence the advancement and availability of biotechnology solutions, especially in personalized genomics. These gatherings unite a diverse spectrum of stakeholders, spanning researchers, clinicians, industry leaders, and policymakers. This convergence offers an unparalleled opportunity for collaboration and knowledge exchange, fostering an accelerated trajectory for new biotechnological advancements and expedited market accessibility.
Furthermore, such events serve as catalysts in elevating public awareness regarding the vast potential and societal benefits of biotechnology. This heightened awareness tends to attract increased investments and backing for biotechnology research and development. It also contributes to fostering greater public acceptance of biotechnology products and services, thus nurturing a more receptive environment.
The London Biotechnology Show 2024 specifically holds immense promise in advancing personalized genomics solutions in various ways:
• Facilitating Research Collaboration: Through presentations and workshops, esteemed researchers in personalized genomics will have a platform to disseminate their latest breakthroughs and forge collaborations with industry partners. This collaboration is instrumental in driving the creation of innovative technologies and products.
• Showcasing Cutting-edge Products: The trade show segment will spotlight the latest offerings from biotechnology companies. This provides healthcare professionals an opportunity to acquaint themselves with novel technologies, enabling them to explore how these advancements can elevate patient care.
• Public Education Initiatives: An integral part of the show is dedicated to public education, aiming to enlighten the masses about the merits of personalized genomics. This educational endeavour is pivotal in fostering broader awareness and acceptance, crucial for the widespread adoption of personalized genomics.
In essence, the London Biotechnology Show 2024 stands as a momentous event poised to significantly influence the development and accessibility of personalized genomics solutions. By fostering collaboration among diverse stakeholders and showcasing cutting-edge advancements, this event has the potential to expedite progress in personalized genomics, extending its benefits to a wider audience
