Genetic testing and reproductive choice in neurological disorders
Omay Lee1, Mary Porteous1,2
1Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, EH4 2XU, Edinburgh, Scotland, UK.
Practical Neurology
|May 18, 2017
Summary
Genetic testing aids in diagnosing inherited neurological disorders, offering crucial presymptomatic and prenatal options for patients and families. Understanding these genetic tests provides vital information and reproductive choices, reducing psychological distress.
Area of Science:
- Neurology
- Genetics
- Medical Ethics
Background:
- Inherited neurological conditions necessitate precise diagnostic tools.
- Genetic testing offers significant diagnostic and prognostic value for patients and families.
- Psychological distress is common in asymptomatic relatives due to potential inherited neurodegenerative conditions.
Purpose of the Study:
- To review genetic testing principles in neurological practice.
- To explore applications in prenatal and preimplantation genetic diagnosis.
- To discuss the ethical considerations of reproductive technologies in genetic diagnosis.
Main Methods:
- Review of genetic testing principles.
- Explanation of direct and exclusion testing.
- Illustrative case examples of family counseling.
- Discussion of ethical implications.
Main Results:
- Genetic diagnosis impacts patients and families significantly.
- Presymptomatic and prenatal testing options are crucial for at-risk relatives.
- Reproductive options provide hope and reassurance to families.
Conclusions:
- Genetic testing is vital for diagnosing inherited neurological disorders.
- Understanding testing options and reproductive choices is essential for patient care.
- Ethical implications of reproductive technologies require careful consideration.
Related Concept Videos
01:28Human Genetics
1.8K
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...
1.8K
01:23Behavioral Genetics and Its Designs
1.2K
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
1.2K
01:43Sex-linked Disorders
109.8K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
109.8K
02:46Genetic Screens
5.8K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.8K
01:11Genetic Lingo
116.2K
Overview
116.2K
01:43Incomplete Dominance
30.8K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
30.8K