Preimplantation Genetic Testing for Adult-Onset Neurodegenerative Disease: Considerations for Access, Utilization,
Rachel A Paul1, Aaron Baldwin2, Kelsey Johnson2
1From the Department of Neurology (R.A.P., A.B., K.J., S.M.P., T.F.T., M.A., L.D.), University of Pennsylvania, Philadelphia; and Sarepta Therapeutics (T.B.), Cambridge, MA. rachel.paul3@pennmedicine.upenn.edu.
Neurology
|August 18, 2023
Summary
Preimplantation genetic testing for monogenic conditions (PGT-M) helps prevent genetic disorders. Neurologists need guidelines to discuss PGT-M factors like genetics, access, success rates, and ethics with families.
Area of Science:
- Reproductive Medicine and Genetics
- Neurology and Neurogenetics
Background:
- Preimplantation genetic testing for monogenic conditions (PGT-M) is an assisted reproduction technique to prevent inherited monogenic disorders.
- There is a growing need for awareness and preparation among neurologists regarding PGT-M discussions with patients and families.
- Current guidelines for discussing PGT-M in the context of neurological conditions are lacking.
Purpose of the Study:
- To discuss the current status of genetic characterization for adult-onset neurodegenerative conditions.
- To highlight key factors for neurologists and genetic counselors to consider when discussing PGT-M with families.
- To provide a framework for informed decision-making regarding PGT-M for monogenic neurological disorders.
Main Methods:
- Review of current genetic characterization in adult-onset neurodegenerative conditions.
- Discussion of major factors relevant to PGT-M implementation and patient counseling.
- Expert insights from neurologists and specialized genetic counselors.
Main Results:
- Identified four major categories of factors for PGT-M discussion: genetic, practical, technical, and psychosocial/ethical.
- Emphasized the importance of confirmed genetic diagnosis and timely results.
- Highlighted considerations regarding access to PGT-M services, success rates, and ethical implications like predictive testing.
Conclusions:
- PGT-M offers a valuable option for families at risk of monogenic neurological conditions.
- Comprehensive counseling addressing genetic, practical, technical, and psychosocial aspects is crucial.
- Development of specific guidelines for neurologists is recommended to support patient care.
Related Concept Videos
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...