Genome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis
CPT4 code
Name of the Procedure:
Genome Sequencing (also known as Whole Genome Sequencing, WGS)
Summary
Genome sequencing is a laboratory procedure that determines the complete DNA sequence of an individual's genome. This allows for a comprehensive analysis of all genetic material, which can reveal mutations or variations linked to unexplained constitutional or heritable disorders and syndromes.
Purpose
Genome sequencing is used to investigate and diagnose unexplained genetic disorders, identify heritable conditions, and aid in personalized treatment plans. It aims to provide a detailed understanding of an individual's genetic makeup to inform medical care and genetic counseling.
Indications
- Unexplained developmental delays or intellectual disabilities
- Familial history of genetic disorders
- Unidentified syndromes after standard genetic testing
- Recurrent miscarriage or infertility
- Personalized cancer treatment planning
Preparation
- No specific dietary restrictions typically required.
- Review of personal and family medical history.
- Informed consent to discuss potential outcomes and privacy of genetic information.
Procedure Description
- A blood sample or saliva sample is collected from the patient.
- Laboratory technicians extract DNA from the sample.
- The DNA is processed and loaded into a sequencing machine.
- The machine generates extensive data on the genetic code.
- Bioinformaticians analyze the data to identify genetic variants.
Tools, equipment, or technology used include sequencing machines, specialized software for data analysis, and DNA extraction kits. Typically, no anesthesia or sedation is required for the sample collection.
Duration
The entire process can take several weeks from sample collection to final analysis and interpretation of results.
Setting
The sample collection can occur in a hospital, outpatient clinic, or specialized genetic testing facility. The sequencing and analysis are performed in a laboratory with advanced equipment.
Personnel
- Geneticists
- Laboratory technicians
- Bioinformaticians
- Genetic counselors
- Physicians specialized in genetics or related fields
Risks and Complications
- Emotional impact of uncovering genetic information
- Possible misinterpretation of genetic variants
- Privacy concerns related to genetic data
Benefits
- Precise diagnosis of unexplained genetic conditions
- Tailored treatment and management plans
- Insight into familial health risks
- Informed decisions about family planning and lifestyles
Recovery
- No physical recovery needed from the sample collection.
- Follow-up appointments with healthcare providers and genetic counselors to discuss results and implications.
Alternatives
- Targeted gene sequencing (more focused approach)
- Exome sequencing (analysis of protein-coding regions)
- Chromosomal microarray (detection of chromosomal abnormalities)
Patient Experience
Patients may feel a minor discomfort during sample collection. The emotional impact of the results can vary, and genetic counselors provide support throughout the process. No significant pain management is required, but counseling and support are crucial for dealing with potential findings.