From the Guidelines
Genetic diseases should be managed with a comprehensive approach that includes genetic testing, family history analysis, and clinical evaluation, as outlined in the position statement by the American College of Medical Genetics and Genomics 1. Genetic diseases are disorders caused by abnormalities in an individual's DNA, and they can be inherited from parents or arise from new mutations.
- These conditions can range from single-gene disorders like cystic fibrosis and sickle cell anemia to chromosomal abnormalities such as Down syndrome and complex multifactorial conditions like diabetes and heart disease.
- The clinical utility of genetic and genomic services is particularly important for patients with complex and often poorly understood clinical disorders, such as autism spectrum disorders and intellectual disability, as well as those with rare disorders diagnosed by chromosome analysis or microarray 1. Key aspects of managing genetic diseases include:
- Diagnosis through genetic testing and clinical evaluation
- Treatment approaches that may include medication, enzyme replacement therapy, gene therapy, and supportive care
- Genetic counseling for families with known genetic conditions to understand inheritance patterns, risks, and available testing options
- Consideration of the patient's quality of life and outcomes, as early diagnosis and appropriate management can significantly improve these aspects, especially for patients with genetic conditions where definitive guidance regarding prognosis and medical management is not yet available 1.
From the Research
Genetic Disorders and Counseling
- Genetic counseling is a medical approach that involves collecting genetic information, making or validating a diagnosis, estimating occurrence and recurrence risk, communicating clinical information, and supporting the family to reach a decision and take appropriate action 2.
- Pompe disease is a genetic disorder caused by mutations in the GAA gene, leading to the absence or reduced expression of acid alpha-glucosidase, an enzyme that metabolizes the breakdown of glycogen into glucose 3, 4, 5, 6.
Pompe Disease
- Pompe disease has two main phenotypes: infantile, characterized by early onset severe weakness and cardiomyopathy, and adult, characterized by slowly progressive skeletal and respiratory muscle weakness 3, 4, 5.
- The disease is inherited as an autosomal recessive trait, with a recurrent risk of 25% for a couple to have a child affected at each pregnancy 4.
- Enzymatic replacement therapy (ERT) has been available for Pompe disease for over 15 years, but it is far from being a cure, and new therapeutic strategies such as gene therapy are being developed 3, 5.
Genetic Counseling in Pompe Disease
- Genetic counseling in Pompe disease involves carrier detection, prenatal diagnosis, and estimating the risk of recurrence 4.
- The molecular genetics of Pompe disease are complex, with 582 mutations reported in the GAA gene, and most mutations are private or found in a small number of families 6.
- Genetic counseling can help families affected by Pompe disease to understand the diagnosis, the risk of recurrence, and the available treatment options 2, 4, 6.