Overview
Definition and Scope
Neurogenetics is a field that explores the relationship between the genome and the nervous system, encompassing various aspects of genetic mutations, inheritance patterns, and genetic diversity in neurological conditions. It has evolved significantly over the past two to three decades, particularly due to advancements in human genome sequencing, which have facilitated the identification of mutations responsible for neurologic diseases and provided new insights into disease pathophysiology.[3.1]
The scope of neurogenetics can be categorized into different approaches. One such approach is instrumental or applied neurogenetics, which utilizes genetic techniques and mutants as tools to analyze structural or functional aspects of the nervous system. This includes the study of mutants that result in homeotic transformations of appendages, among other applications.[4.1] Additionally, neurogenetics encompasses a wide range of neurogenetic disorders, with notable case studies including Alzheimer's, Huntington's, and Parkinson's diseases, highlighting the clinical relevance of genetic research in understanding and treating these conditions.[5.1]
Importance in Neuroscience
Neurogenetics plays a pivotal role in advancing the field of neuroscience by elucidating the genetic underpinnings of neurological disorders. This discipline focuses on how genetic variations influence brain structure and function, thereby enhancing our understanding of various neurological conditions. Research in neurogenetics has identified specific genetic factors associated with an increased risk of developing disorders such as Alzheimer’s disease, Parkinson’s disease, and epilepsy. By targeting these genetic factors, researchers aim to develop therapeutic strategies that can modify the underlying genetic contributions to these conditions, ultimately leading to personalized interventions for affected individuals.[8.1]
Recent advancements in genome sequencing technologies, particularly the development of next-generation sequencing, have significantly transformed the diagnostic landscape for neurological disorders. Over the past decade, these technologies have shortened the time to diagnosis and increased the number of patients identified as affected by these disorders.[12.1] Whole-exome sequencing (WES) has been extensively utilized in clinical practice, demonstrating a diagnostic yield ranging from 20.4% to 37.5% for neurological disorders in large cohorts, which has been instrumental in elucidating genetic causes in previously undiagnosed patients.[10.1] Moreover, the emergence of long-read sequencing (LRS) and optical genome mapping has provided powerful tools for capturing complex genetic variations, leading to the discovery of novel genes associated with well-characterized neurodegenerative diseases.[14.1] These advancements not only enhance our understanding of the genetic basis of these conditions but also pave the way for improved treatment and prevention strategies.
The integration of neurogenetics into clinical practice is significantly advancing personalized clinical care. By leveraging a comprehensive understanding of a patient's genetic profile and medical history, healthcare providers can develop highly tailored treatment programs for individuals, particularly in the context of neurological disorders.[15.1] For instance, advancements in genomics, such as whole genome sequencing and optical genome mapping, allow for a personalized assessment of disease mechanisms, which is crucial for identifying actionable targets in treatment.[19.1] Furthermore, novel technologies, including exome and genome sequencing, as well as mass spectrometry, are increasingly accessible and can guide treatment decisions and monitor the effectiveness of interventions in rare diseases.[18.1] Additionally, methods such as gene expression analysis and CRISPR-Cas technologies facilitate the unraveling of disease mechanisms and the identification of biomarkers for diagnosis and disease activity, thereby enhancing the development of therapeutic strategies.[16.1] This comprehensive approach exemplifies the shift towards preventive, predictive, personalized, and participatory medicine, which is essential for optimizing care in patients with neurological conditions.[16.1]
History
Early Discoveries in Neurogenetics
Neurogenetics has undergone significant evolution over the past two decades, particularly due to advancements in human genome sequencing. These advancements have facilitated the identification of mutations responsible for various neurologic diseases and have provided new insights into disease pathophysiology.[48.1] The field of neurogenetics, which lies at the intersection of neuroscience and genetics, has a rich history that dates back to the 19th century. Early documentation of hereditary diseases, such as Friedreich's Ataxia and Huntington's Disease, laid the groundwork for understanding the genetic basis of neurological disorders.[49.1]
Pivotal discoveries in neurogenetics have marked significant milestones in the understanding of genomic disorders. The integration of advanced cytogenetics, somatic hybrid techniques, and molecular genotyping has refined the mapping of various neurodevelopmental disorders, including fragile X syndrome and Miller-Dieker lissencephaly.[59.1] The 1980s and 1990s saw crucial advancements in molecular biology, including the discovery of microsatellites and improvements in polymerase chain reaction (PCR) techniques, which facilitated genetic mapping and led to significant findings related to several neurological disorders.[60.1]
The development of large insert cloning and other physical mapping techniques during the 1990s played a crucial role in the discovery of many disease genes. These techniques revealed that haploinsufficiency or gene duplication could cause overlapping neurological phenotypes, such as those seen in Parkinson's disease and Alzheimer's disease.[62.1] Furthermore, recent studies have implicated rare genetic variants, such as those in the HTRA1 gene, in common diseases, illustrating the importance of examining genetic variations in understanding neurological conditions.[63.1]
As research in neurogenetics continues to advance, it holds the potential for developing targeted therapies and improving outcomes for individuals affected by neurological disorders.[61.1] The identification of specific genetic factors associated with conditions like Alzheimer's disease and Parkinson's disease has led to the development of therapeutic strategies aimed at altering the underlying genetic factors contributing to these disorders.[68.1] This ongoing exploration of genetic markers not only enhances the understanding of complex neurological conditions but also guides the development of precision medicine approaches tailored to individual genetic risk patterns.[69.1]
Evolution of the Field
The evolution of neurogenetics has been marked by significant milestones that trace its development from the pre-DNA era to contemporary advancements. Initially, the relationship between neurology and heredity was documented in the late 19th century, when several inherited neurological disorders were described, laying the groundwork for what would later be termed neurogenetics.[50.1] This emerging field integrates the disciplines of neurology and genetics, focusing on the correlation between genetic codes and the development and function of the nervous system, including behavioral traits and neurological diseases.[51.1]
The advent of genetic testing has revolutionized the diagnosis and management of neurological conditions. It has enabled clinicians to identify the genetic underpinnings of diseases with unprecedented precision, thereby enhancing the understanding of both hereditary and sporadic disorders.[56.1] Genetic testing serves as a rapidly evolving diagnostic tool, allowing for comprehensive diagnoses of hereditary neurological diseases, which has important implications for clinical management.[57.1] Moreover, it facilitates earlier detection and better risk management, leading to the potential for personalized treatments aimed at delaying or preventing disease onset.[58.1]
As the field of neurogenetics has advanced, the role of genetic counseling has become increasingly critical. Genetic counseling is essential due to the complexity and variability of neurological conditions, many of which have a strong genetic component influenced by environmental factors.[73.1] Genetic counselors provide personalized guidance to patients and their families, helping them understand the implications of genetic findings related to neurological disorders.[75.1] The demand for genetic counseling has surged in response to the growing number of patients seeking genetic health care, as well as the increasing complexity of cases and available laboratory tests.[76.1] This trend underscores the necessity for pre- and post-test counseling to accompany the expanding array of genetic tests, particularly for presymptomatic assessments.[76.1]
Recent Advancements
Technological Innovations
Recent advancements in neurogenetics have been significantly influenced by technological innovations, particularly in genome sequencing technologies. The development of next-generation sequencing (NGS) platforms has revolutionized the ability to determine the genetic etiology of numerous neurological diseases, facilitating the identification of genetic causes that were previously elusive. This technology has led to substantial breakthroughs in understanding both Mendelian and complex neurological disorders, such as Alzheimer's disease, Parkinson's disease, and multiple sclerosis.[133.1]
Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have emerged as critical tools in clinical practice, with WES achieving a diagnostic yield of 20.4% to 37.5% for neurological disorders in large cohorts.[10.1] However, WGS has proven to be more powerful than WES, particularly in detecting copy number variations (CNVs) and single nucleotide variants (SNVs), which are crucial for understanding complex traits associated with diseases like Charcot–Marie–Tooth disease and spinocerebellar ataxias.[119.1] The application of these sequencing technologies has not only expedited the identification of known disease genes but has also uncovered novel risk factors and pathogenic mutations associated with various neurological conditions.[118.1]
Recent advancements in neurogenetics have significantly enhanced our understanding of the genetic factors influencing neuroplasticity and cognitive health. Research has shown that certain genetic variants can affect gene expression, leading to alterations in neuroplasticity. For instance, mutations in the brain-derived neurotrophic factor (BDNF) gene have been linked to impaired plasticity and an increased risk of neurodegenerative disorders.[97.1] Additionally, genome-wide association studies (GWAS) have been crucial in uncovering common genetic variability that contributes to various complex disorders, while whole-exome and whole-genome sequencing have identified rare variants that have substantial effects on both Mendelian and complex diseases.[134.1] These methodologies not only deepen our understanding of neurological disorders but also highlight potential therapeutic avenues for treating brain injuries and neurodegenerative diseases, as researchers have identified specific molecular pathways that facilitate neuroplasticity.[99.1] The integration of these advanced technologies promises to yield further insights and innovations in the field of neurogenetics.
Clinical Applications and Implications
Recent advancements in neurogenetics have significantly influenced clinical applications and implications, particularly in the diagnosis and treatment of neurological disorders. The characterization of genetic variations has enabled researchers to design improved diagnostic tools and potential therapies, thereby enhancing personalized medicine approaches. Genetic tests can identify patients at increased risk for neurological disorders, guiding treatment decisions effectively.[100.1]
The explosion of new genetic technologies has facilitated the identification of specific genes responsible for various neurological diseases, providing critical insights into their pathophysiology.[101.1] Pathogenic variants in over 1,700 genes have been linked to neurogenetic disorders, making monogenic diseases prime candidates for genetic therapies. However, challenges such as the blood-brain barrier, post-mitotic neurons, and inefficient delivery platforms complicate the application of gene therapies for these conditions.[102.1] Notably, the approval of gene therapies, such as those for cerebral adrenoleukodystrophy, marks a significant milestone in the treatment landscape for neurogenetic disorders.[103.1]
Recent studies utilizing large datasets have provided significant insights into the correlations between pathogenic gene variations and clinical phenotypes in individuals with neurogenetic disorders, which may inform potential therapeutic interventions.[104.1] The field of clinical neurogenetics has evolved rapidly, with indications for genetic testing no longer relying solely on family history. This shift is crucial, as family history can often be misleading due to factors such as misdiagnosis, misattribution of symptoms, incomplete and age-related penetrance, or the presence of de novo genetic variants.[114.1] Advances in neurogenetics have also led to practical applications, allowing for rapid diagnosis through non-invasive methods such as blood and body fluid analysis to extract DNA. This capability enables presymptomatic diagnoses via genetic screening and biomarkers, which can guide life-saving disease-modifying therapies or enzyme replacement strategies.[108.1]
Patient advocacy organizations play a crucial role in translating advancements in neurogenetics into practical support for patients and their families. These organizations provide education, resources, and advocacy for the development of gene therapies, enhancing patient experiences and promoting health literacy.[107.1] As the field continues to evolve, the integration of neurogenetic findings into clinical practice is expected to improve patient outcomes through more effective and targeted therapies.[112.1]
Genetic Basis Of Neurological Disorders
Common Genetic Disorders
Recent advancements in genetic testing have significantly influenced the diagnosis and understanding of common neurological disorders, particularly Alzheimer's disease (AD) and other neurodegenerative conditions. The identification of rare genetic mutations associated with early-onset AD, such as those on chromosomes 1 (PSEN2), 14 (PSEN1), and 21 (APP), has enabled predictive genetic testing for families with a known or suspected mutation, despite these variants accounting for a small proportion of overall AD cases.[152.1]
The integration of genetic testing into the diagnostic pathway for dementia can potentially reduce the time required to ascertain the underlying cause of the condition, thereby enhancing the diagnostic process.[153.1] Genetic testing not only aids in establishing a definitive diagnosis but also improves familial understanding of the disease and offers at-risk relatives the option for predictive testing.[151.1]
Moreover, technological advancements, particularly in next-generation DNA sequencing, have facilitated the rapid identification of causative genes associated with various neurological disorders. This progress allows for more precise diagnoses and suggests that genetic testing should be incorporated earlier in the diagnostic process.[155.1] As the number of identified pathogenic variants increases, genetic testing has also improved the ability to provide recurrence risk information to family members and, in some instances, determine eligibility for clinical trials.[156.1]
Ultimately, the detailed genetic and molecular characterizations achieved through these advancements may lead to personalized treatment options and improved therapeutic strategies for patients suffering from common neurological disorders.[157.1]
Neurogenomics And Precision Medicine
Personalized Treatment Approaches
Personalized treatment approaches in neurogenetics are increasingly influenced by advancements in precision medicine, particularly through the application of neural stem cells, induced pluripotent stem cells (iPSCs), genetic profiling, and pharmacogenetics, especially in the contexts of Alzheimer's disease and schizophrenia.[186.1] These approaches aim to enhance our understanding of the genetic architecture of neurodegenerative diseases, which is essential for developing novel disease-modifying therapies.[185.1] Furthermore, pharmacogenetic studies have provided valuable insights into the variability of drug responses among individuals, highlighting their implications for patient management in clinical practice.[190.1] By evaluating current achievements alongside existing challenges, the integration of these personalized approaches is crucial for improving patient outcomes in neurology.[185.1]
Pharmacogenetics is increasingly recognized as a vital component in the personalized treatment of neurological disorders, as it provides insights into the variability of drug responses among individuals.[190.1] This field is expected to become a standard consideration in pharmaceutical use, yet there remains a significant gap in the availability of relevant information for practicing physicians.[191.1] Despite the promising results from pharmacogenetic studies, the integration of these insights into clinical practice faces several barriers. Key challenges include the fragmentation of healthcare systems, which complicates the delivery of consistent care over a patient's lifetime, and the prevailing focus of healthcare delivery systems on treating illness rather than preventing disease.[194.1] Additionally, the lack of robust clinical practice guidelines and algorithms further hinders the translation of pharmacogenetic findings into everyday clinical settings.[193.1] To effectively implement personalized treatment approaches, it is essential that these guidelines are not only comprehensive and up-to-date but also flexible enough to adapt to new research developments.[193.1]
The integration of genetic profiling into the management of neurodegenerative diseases (NDDs) presents significant challenges, particularly in diverse patient populations. Key hurdles include determining patient eligibility for genetic testing, ensuring the appropriate use of diagnostic tools, and effectively detecting and monitoring treatment side effects.[200.1] Additionally, resource limitations such as financial constraints, access to specialized care, and insufficient caregiver support further complicate the management of these disorders.[201.1] These complexities highlight the necessity for a collaborative, multidisciplinary approach to care that addresses the social, economic, and ethical implications of neurodegenerative diseases.[201.1] Traditional classifications of NDDs, which have relied on clinical symptoms and post-mortem findings, often fail to capture the intricate molecular, genetic, and temporal dynamics involved, underscoring the need for more personalized treatment strategies.[202.1]
As research continues to uncover the genetic underpinnings of neurodegenerative disorders, the development of targeted therapies is becoming increasingly feasible. For instance, gene therapies aimed at correcting disease-causing mutations are being explored, although challenges such as the blood-brain barrier and delivery mechanisms remain significant obstacles.[205.1] Overall, the evolution of personalized treatment approaches in neurogenetics holds promise for improving outcomes in patients with neurological disorders, contingent upon overcoming existing barriers and enhancing the integration of genetic insights into clinical practice.
Future Directions in Neurogenomics
Recent advancements in neurogenetic testing are paving the way for a new era of personalized medicine in neurology. These developments leverage genetic insights to facilitate more precise, effective, and individualized care for patients with neurological disorders, ultimately enhancing their quality of life.[218.1] The genotype-first diagnostic approach has gained traction due to the increasing availability of genetic technologies, such as next-generation sequencing (NGS) and DNA microarrays, which provide greater opportunities for diagnosing patients and their family members.[219.1]
Moreover, the rapid progress in sequencing technology has significantly improved diagnostic capabilities for rare neurological diseases, which can greatly influence clinical management and the development of personalized treatments.[221.1] As these technologies advance, it is crucial for insights from researchers and geneticists to inform clinical practice, particularly as methods for modifying gene expression and editing genes or the epigenome transition into clinical settings.[220.1]
In the context of specific neurological disorders, there is growing evidence linking genetic variations to conditions such as schizophrenia and Alzheimer's disease (AD). Both disorders exhibit substantial genetic components, with schizophrenia having an estimated heritability of approximately 80% and AD ranging from 60% to 80%.[224.1] Recent genome-wide association studies (GWAS) have identified numerous loci associated with these conditions, primarily located outside protein-coding regions, suggesting they may influence gene transcription.[226.1]
Furthermore, polygenic risk scores (PRSs) for schizophrenia and AD indicate some genetic predisposition, although findings remain inconsistent across studies.[225.1] The genetic correlations between schizophrenia and AD, while weak, suggest a complex interplay of genetic factors that may inform our understanding of the underlying mechanisms of these disorders.[225.1] As research continues to uncover the genetic underpinnings of neurogenetic disorders, the integration of these insights into clinical practice will be essential for advancing precision medicine in neurology.
Ethical Considerations
Genetic Testing and Patient Privacy
Genetic testing, particularly in the context of neurogenetics, raises significant ethical considerations regarding patient privacy and informed consent. The complexities surrounding informed consent are particularly pronounced when testing minors, as both parental consent and the child's assent are required. The National Society of Genetic Counselors has advocated for deferring predictive genetic testing of minors for adult-onset conditions, emphasizing the importance of allowing individuals to make informed choices as adults based on their circumstances and beliefs.[236.1] Similarly, the American College of Medical Genetics and Genomics, in collaboration with the American Academy of Pediatrics, has reaffirmed the necessity of deferring such testing until adulthood.[236.1]
Informed consent in genetic testing is not merely a procedural formality; it is a critical component that ensures patient autonomy and addresses the potential implications of genetic findings. The American Society of Human Genetics and ACMG recommend that the informed consent process should include an assessment of the benefits and harms of the test, an evaluation of the child's decision-making capacity, and advocacy for the child's interests.[238.1] This is particularly important given that genetic findings can lead to incidental discoveries that may not directly correlate with health outcomes, thereby complicating the interpretation of results.[238.1]
Legal frameworks governing informed consent in neurogenetic testing are derived from a complex intersection of state and federal case law, statutes, and regulations, including relevant federal anti-discrimination legislation such as the Americans with Disabilities Act (ADA) and the Genetic Information Nondiscrimination Act (GINA).[239.1] Informed consent is an integral part of the genomics research endeavor, as sequencing a person’s genome can have implications for identity and privacy.[241.1] The informed consent process is crucial for maintaining the autonomy of research participants, and researchers should consider the information that participants need to understand the risks and potential benefits of their involvement in studies.[241.1] The National Human Genome Research Institute (NHGRI) has developed resources to assist researchers in creating effective informed consent processes, which include sample language for consent forms and guidance on the required elements for informed consent, particularly in the context of genomic data sharing.[241.1]
The ethical responsibilities of healthcare providers are further complicated by the need for transparency regarding the collection, use, and sharing of genetic data. Key recommendations for best practices in genetic data management include ensuring detailed transparency about data handling, obtaining separate consent for data transfer to third parties, and providing educational resources about genetic testing.[260.1] Additionally, there is a growing recognition of the need for robust legal protections to safeguard genetic information, particularly as advancements in genetic testing continue to evolve.[261.1] This intersection of biotechnology and privacy law underscores the urgency of establishing comprehensive legal frameworks to protect individuals' genetic data and uphold ethical standards in neurogenetics.
Implications of Genetic Research
The implications of genetic research in neurogenetics are profound and multifaceted, raising significant ethical questions that must be addressed as the field advances. The ability to manipulate or alter genetic information introduces potential unforeseen consequences, particularly concerning consent and the rights of vulnerable populations.[234.1] Ethical considerations have been central to discussions surrounding neurogenetic issues, especially as rapid advancements in diagnostic and therapeutic genetic technologies present novel dilemmas.[231.1]
One critical area of concern is the application of predictive genetic testing, which allows asymptomatic relatives to assess their risk for neurogenetic conditions. Professional guidelines emphasize the importance of patient autonomy and informed, voluntary decision-making in this context.[230.1] However, ethical issues arise when considering the age of the patient, particularly minors, as organizations like the National Society of Genetic Counselors advocate for deferring predictive genetic testing for adult-onset conditions until individuals can make informed choices as adults.[229.1]
Moreover, the complexity of genetic testing and the various types of results can create ethical challenges for clinicians. Neurologists must navigate the principles of beneficence and nonmaleficence while ensuring that patients are adequately counseled to make informed decisions about their care.[235.1] This balance is crucial in fostering shared decision-making and maintaining the fiduciary responsibilities of healthcare providers.
As genetic research progresses, particularly with the advent of technologies like CRISPR, the ethical frameworks governing informed consent and the potential for unforeseen consequences must evolve. The increasing prevalence of genome-editing trials necessitates a re-evaluation of the informed consent process to ensure that participants are fully aware of the risks and benefits involved.[244.1] Furthermore, the ethical considerations surrounding gene editing raise profound questions about our moral responsibilities towards future generations and the potential alteration of human nature.[246.1]
Challenges And Future Perspectives
Current Limitations in Research
The timely diagnosis of neurogenetic conditions presents significant challenges, particularly in identifying dynamic mutations, which are characterized by an increased number of repetitions of specific trinucleotides. These mutations are associated with various neurological and neuromuscular disorders, complicating the development of effective therapies due to their intergenerational variability and the complexities of their genetic underpinnings.[282.1]
Pathogenic variants in over 1,700 genes can cause neurogenetic disorders, making monogenic diseases ideal targets for genetic therapies. However, significant challenges exist in the development of these therapies due to the blood-brain barrier (BBB), the post-mitotic nature of neurons, and inefficient delivery platforms.[283.1] Following the approval of nusinersen in 2016, the field has seen rapid advancements in gene therapies for neurogenetic disorders, including the development of new delivery vehicles such as BBB-crossing capsids, engineered viral-like proteins, and lipid nanoparticles (LNPs).[285.1] Despite these advancements, there remains a critical need for innovation in regulatory and commercial pathways to facilitate the translation of these therapies and to reduce the time and cost associated with their development.[283.1]
The interpretation of rare genetic variants associated with neurodevelopmental disorders presents significant challenges for healthcare professionals, particularly due to the presence of variants of uncertain significance (VUS).[286.1] This complexity complicates clinical decision-making, as professionals must navigate the intricacies of variant pathogenicity, often relying on gene family information for accurate classification.[288.1] Whole genome sequencing (WGS) remains the gold standard for discovering rare variants, as it allows for comprehensive analysis of genomic modifications, including those in difficult regions of the genome.[287.1] Given the labor-intensive nature of interpreting these variants, automating the processes of variant annotation and prioritization is essential to streamline diagnostics and reduce the burden on clinicians.[289.1]
Despite these challenges, advancements in genetic technologies have the potential to improve diagnosis and treatment outcomes for patients with neurogenetic disorders. For instance, the approval of nusinersen in 2016 marked a significant milestone in the development of gene therapies, leading to rapid advancements in delivery vehicles and therapeutic strategies.[285.1] As the understanding of pathomechanisms deepens, there is hope for the development of specific therapeutic options for rare neurogenetic diseases, which constitute a significant portion of genetic disorders affecting the nervous system.[290.1]
Potential for Future Discoveries
The potential for future discoveries in neurogenetics is significant, particularly as advancements in genetic testing and gene editing technologies continue to evolve. One of the primary challenges in this field is the nature of mutation types frequently encountered in neurodegenerative diseases, such as dynamic mutations that underlie conditions like Huntington disease and fragile-X mental retardation.[265.1] Despite these challenges, there is optimism regarding the translation of genetic information into revolutionary therapies, although the pace of therapeutic development has been slower than anticipated.[266.1]
Recent studies have demonstrated the significance of investigating rare genetic variants, particularly those in the HTRA1 gene, which have been associated with the occurrence of white matter hyperintensities in the general population.[267.1] These findings underscore the importance of utilizing large public datasets to enhance our understanding of genetic contributions to common diseases, as they reveal that heterozygous variants within autosomal recessive genes are not always benign, a concept predicted by Vogel nearly 40 years ago.[267.1] Additionally, the ongoing discourse surrounding gene editing technologies has led to calls for intensive basic and preclinical research, which is essential to ensure that such research proceeds under appropriate legal and ethical guidelines.[268.1] The organizing committee at a recent summit emphasized the need for global engagement and discussion regarding gene editing, highlighting that many promising applications are focused on altering genetic sequences in somatic cells, while also addressing the ethical, legal, and scientific questions surrounding germline editing that remain unresolved.[268.1]
As gene editing technologies become more accessible, ethical considerations will play a crucial role in shaping the future of neurogenetics. The potential for heritable genome editing raises significant ethical, scientific, and social challenges that must be addressed to prevent unintended generational changes.[269.1] The debate surrounding germline editing has intensified, especially given the concerns about informed consent and equitable access to these technologies.[270.1]
The establishment of the Human Genome Editing Initiative by the National Academy of Science and the National Academy of Medicine in 2015 marked a significant step towards creating informed decision-making processes regarding germline editing experiments, particularly in response to ethical concerns raised by advancements in gene editing technologies.[271.1] This initiative has organized three international summits that convene experts to discuss both the technological advances in the field and the necessary ethical frameworks for responsible research practices.[271.1] Concurrently, the role of genetic testing in neurologic clinical practice has seen a dramatic increase in recent years, driven by research on the genetic causes of neurologic diseases and the enhanced availability of genetic sequencing technology.[275.1] As a result, it is essential to integrate genetic evaluations into clinical management, particularly for individuals with genetic developmental disorders such as global developmental delay/intellectual disability (GDD/ID), autism spectrum disorder (ASD), and cerebral palsy (CP).[274.1] Offering genetic evaluation to these individuals can lead to numerous benefits, including improved medical management, reproductive counseling, access to clinical trials, and the facilitation of family testing.[274.1]
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