Genetic misdiagnosis may be the result of failure to provide genetic counseling and/or genetic testing to a patient or couple at high risk of carrying and transmitting a genetic defect to an offspring. Genetic testing is a test or complement of tests designed to identify changes in chromosomes, genes or proteins that are associated with inherited (hereditary) disorders. Although genetic testing is voluntary, a medical provider must identify and offer a patient the opportunity to avail himself/herself of the opportunity to find out its potential effects.
All organs (tissues) are composed of cells. Each cell has a nucleus that contains DNA molecules packaged in thread like structures called chromosomes. Each person contains 23 pairs of chromosomes; 22 of these pairs of chromosomes are alike in men and women with the 23rd pair, known as sex chromosomes differing between men and women. Each chromosome contains many genes. A gene is made up of DNA that functions to transmit heredity. The DNA acts as a set of instructions to make molecules known as proteins. The Human Genome Project has estimated that humans have between 20,000 and 25,000 genes. Each person has two copies of each gene inherited one from each parent.
Genetic testing are performed on a sample of blood, hair, skin, amniotic fluid or any type of tissue. Types of genetic testing include:
- Carrier testing
- Preimplantation testing
- Prenatal testing
- Newborn testing
- Diagnostic testing
- Predictive testing in asymptomatic individuals
- Forensic testing
Up to 2% of infants have a significant structural abnormality and up to another 3% will have a single gene disorder that will manifest itself before age 25. Thus, all conceptions have up to 5% probability of an abnormal fetal outcome. Until recently, basic preconception or prenatal screening consisted of a combination of a positive family history, maternal serum screening and ultrasound surveillance at certain stages of gestation. Most genetic disorders have a recurrence risk of between 25% and 50%. Family history and past medical history alone can only detect up to 20% of pregnant patients that have an increased risk of a potential genetic abnormality.
A genetic test can be positive, negative or inconclusive or indeterminate. Many tests are not able to detect all genetic changes associated with a particular disease. Interpretation of a genetic test invariably requires a healthcare professional's interpretation. Failure to order an indicated test or refer a patient for genetic counseling to an appropriate geneticist or genetic counselor could have devastating consequences and constitute medical malpractice.
Examples of medical malpractice involving genetic misdiagnosis include:
- Cystic fibrosis
- Fragile X syndrome
- Tay-Sachs
- Thalassemia
- Rh incompatibility
- Spina bifida
- Sickle cell disease
- Trisomy 13 (Patau's syndrome)
- Trisomy 18 (Edward's syndrome)
- Trisomy 21 (Down's syndrome)
If your child suffers from a genetic disease and you were not given the option to undergo genetic counseling and/or genetic testing, the Boston area medical malpractice attorneys at Barry D. Lang, M.D. & Associates can help you assert your rights and get the compensation you deserve.
