Informed consent for whole exome sequencing (WES)
- The purpose of this form is to guide the consent process and to supplement the pre-test counseling discussion. This test is voluntary; it is your choice to have this test or not. You are encouraged to ask any questions about this test, including questions about alternative testing.
Purpose of whole exome sequencing (WES)
- To identify genetic cause(s) of the patient’s health issues.
- WELALA DNA collection kit is not a diagnostic test and should be used in context with other clinical findings by the healthcare provider to help with a diagnosis and treatment plan.
Description of the test process
- This genetic test examines most of the genes in the body at one time. This test is different from most genetic tests that analyze only one gene at a time.
- This test requires a small sample of cheek tissues. The laboratory will isolate DNA from this sample(s). The DNA that determines the composition of most of the proteins that the body makes will be isolated and analyzed.
- The laboratory will compare your DNA sequence with reference DNA database to find the cause of diseases from your DNA sequence.
- The laboratory will use clinical information and family history to decide which of the hundreds of genetic changes identified are likely to be responsible for the patient’s signs and symptoms.
- The laboratory will report the genetic changes likely to be associated with the patient’s signs and symptoms to the referring physician.
Limitations of WES Technology
- This test does not sequence every exon. Approximately 85-92% of the exons are sequenced by this test.
- This test does not sequence every exon well enough to find all mutations in each exon.
- WES detects only single base pair changes or small additions or deletions of DNA. This test does not detect other types of mutations.
- It is important to have reliable clinical information and an accurate family history in order to interpret results from WES correctly. WES testing is more likely to find a genetic cause of a patient’s disease when several family members are analyzed at the same time.
- Approximately 25% of patients receive a diagnosis or suspected diagnosis from this test.
- WES results typically do not predict severity or age of onset of a particular condition.
- WELALA DNA test is not a diagnostic test and should be used in context with other clinical findings by the healthcare provider to help with a diagnosis and treatment plan.
Potential risks of WES
- No laboratory test, including WES, is 100% accurate.
- This test may reveal that the biological relationships in a family are not what they seem.
What is reported
- Genetic changes that may have caused the patient’s signs and symptoms.
- Genetic changes identified in family members and related to the patient’s signs and symptoms will be included in the patient’s report. Family members will not receive separate written reports.
What is not reported
- Variants in genes that are not thought to affect one’s health
- Variants identified in research studies and whose relationship with disease is unclear.
- Variants that predict an increased risk of a disease, but do not cause a disease by themselves.
- All your information is complied with Thai PDPA if you wish to withdraw your information in WELALA system. Please contact email@example.com.
- The laboratory will report test results to the physician or health care provider who ordered the test.
- The laboratory will not give test results to other individuals without your written permission.
- The written report is expected to become part of the patient’s medical record. The patient’s health insurance provider or other parties may have legal access to this information.
Future of the data
- The laboratory will not store any remaining sample(s) and discard those samples after testing.
- The laboratory will store the test report for 10 years.
- The laboratory will store the information on a secured computer that can only be accessed by specified personnel.
Post-Test Counseling and interpertation
It is recommended that patients seek genetic counseling before signing this consent and at the time final results are available. Signing this document indicates that the test and its limitations have been explained to you.
I acknowledge that I have discussed the benefits, risks, and limitations of this genetic test with my physician or genetic counselor. I consent to whole exome sequencing. I will receive a copy of this consent form for my records.