Genetic testing can be a valuable tool for identifying diseases and predicting birth defects. Testing a patient's genes can show what many other diagnostic tests cannot. However, learning from a genetic test requires a doctor ordering the right test in the first place. Unfortunately, errors in genetic testing are common, resulting in unnecessary waste and failing to help patients identify real problems.
Common Problems in Genetic Testing
In a study published in the American Journal of Medical Genetics, a genetic counselor reviewed genetic test orders to identify common mistakes. According to Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing, genetic test order errors are common because many healthcare providers have limited knowledge or experience in ordering and interpreting genetic tests.
A review of genetic tests ordered over a 21-month period found more than a quarter of all requests for complex genetic tests assessing germ line mutations were changed following a genetic counselor's review. These testing mistakes cost the referring institutions an average of $48,000 per month, costs which are often passed down to patients. Some of the most common genetic testing mistakes involve:
- Ordering the wrong genetic test for the patient;
- Disease mix-ups and medical condition confusion; and
- Failing to order the more clinically appropriate genetic test.
What Can Genetic Testing Show?
According to the U.S. National Library of Medicine, “genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder.”
Some of the ways genetic testing can help patients include prenatal testing and newborn screening. Newborn screening can help identify a number of genetic disorders that have more treatment options early in life. Some of the conditions newborn testing can identify include phenylketonuria and congenital hypothyroidism. Identifying these conditions early on can prevent serious disability or injury later in life.
Prenatal testing is also a common way to use genetic testing to identify possible birth complications. Prenatal testing can detect changes in the fetus's genes or chromosomes that could pose a risk of serious disorder, birth defect, or health condition. Some of the conditions and diseases that may be identified by genetic testing include:
- Down syndrome (Trisomy 21)
- Cystic fibrosis
- Trisomy 13 (Patau syndrome)
- Trisomy 18 (Edwards syndrome)
- Turner syndrome
- Cri-du-Chat syndrome
- Missing copies of the X chromosome or Y chromosome
- Sickle cell disease
- Tay-Sachs disease
- Spinal muscular atrophy
- Fragile X syndrome
Even when a person does not have a disease or health condition, they may still be a carrier of a gene mutation. When two parents both carry some gene mutations it can manifest in their child, even if neither parent is aware of the mutation and does not have symptoms of the problem.
Genetic Testing Error Lawyers
If your child was diagnosed with a genetic disorder that you never knew about, you can speak with a medical malpractice attorney for answers. Call Gilman & Bedigian today for a free consultation.