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Genetic Testing Errors

Genetic tests make it possible to determine a person’s likelihood of developing or passing on a genetic disorder. For pregnant women, genetic testing is crucial for ruling out any change or mutation in a fetus’s genes or chromosomes, which could affect their child’s risk of developing severe disorders, health conditions, and birth defects.

Failure to accurately interpret genetic test results and provide necessary treatment may be considered medical malpractice. If your doctor committed a genetic testing mistake or misinterpreted the results, you have the right to seek legal compensation.

genetic-testing-laboratory-to-prevent-birth-injury

The experienced personal injury attorneys at Rosenfeld Injury Lawyers, LLC can serve as your legal counsel and advocates. Call our birth injury attorneys at (888) 424-5757 (toll-free phone number) or use the contact form to schedule a free case evaluation.

Health care providers should recommend a diagnostic test for any patient with a suspected/abnormal/positive non-invasive prenatal testing (NIPT) result. Furthermore, they should educate parents on the purpose of genetic testing and what specific test results could mean for their child.

When genetic disorders are detected early and diagnosed accurately, doctors can help expecting families explore their options, including pregnancy termination. Families will also have the chance to prepare for caring for a child with a genetic disorder, especially when it comes to the child's health care needs after it is born.

What Is Genetic Testing?

Genetic testing identifies changes in a person’s genes, chromosomes, and proteins.

  • Genes are the building blocks of heredity that are transferred from parent to child. They determine some traits of the child, such as hair color, eye color, skin color, etc. Gene tests uncover genetic variations (also known as “mutations) that can cause a genetic disorder.
  • Chromosomes are long DNA molecules that carry our genetic material. Genetic tests with significant genetic changes (e.g., an extra chromosome) may indicate a genetic disorder.
  • Proteins are composed of one or more chains of amino acids. The DNA sequence of the protein-encoding gene determines the sequences of proteins. When the amount or activity level of proteins is abnormal, it could indicate DNA changes that can, in turn, cause a genetic disorder.

Genetic testing comes with pros and cons, which doctors must discuss with family members. Speaking with a genetic counselor about the potential benefits and drawbacks of medical-grade testing also helps.

What Are Genetic Disorders?

A genetic disorder is a disease caused by an abnormality in the DNA sequence. There are three different kinds of genetic disorders:

  • Single-gene disorder (monogenic) - the mutation affects only one gene, e.g., single-cell anemia.
  • Chromosomal disorder - the mutation leads to a missing or changed chromosome or part of the chromosome structure, e.g., Down’s syndrome.
  • Complex disorder (multifactorial) - the mutation alters one or more genes. Complex disorders usually develop from lifestyle or environmental changes, e.g., colon cancer.

Here are some of the most common genetic disorders:

  • Down’s syndrome
  • Fragile X syndrome
  • Klinefelter syndrome
  • Autism spectrum disorder
  • Diabetes
  • Spina bifida
  • Cystic fibrosis
  • Congenital deafness
  • Sickle cell disease
  • Turner syndrome

The examples highlighted are just the tip of the iceberg; there are over 6,000 genetic disorders known today. Most are incurable but are treatable, especially with proper genetic counseling.

Who Needs Genetic Testing?

Genetic testing is voluntary, and not everyone needs it. However, certain risk factors increase your risk for genetic disorders, which, in turn, increases your need for genetic testing.

Genetic testing and genetic counseling are highly recommended for pregnant mothers to rule out any potential disorders. Typically, doctors will advise pregnant women to get genetic testing as part of their prenatal care.

Genetic testing is essential for parents with the following risk factors:

  • Advanced maternal age (35 or older) and advanced paternal age (40 or older)
  • Previous multiple miscarriages or prior stillbirth
  • A chromosomal abnormality in either parent
  • A previous child with a congenital disability
  • A family history of genetic disorders

Genetic Tests

In general adult settings, genetic testing is done by analyzing saliva or blood samples. For expectant mothers, genetic testing starts with prenatal screening tests to see if the fetus has an increased risk of genetic disorders.

There are two types of prenatal genetic screening tests:

  • Carrier screening is done on both parents to see if they carry a gene for inherited disorders, such as hereditary breast cancer. Parents can do it before or after conception.
  • Prenatal genetic screening is done during the pregnancy. These tests screen the fetus for aneuploidy (a condition wherein there are missing or extra chromosomes), neural tube defects (NTDs), facial defects, etc.

If the prenatal test turns up positive results, your doctor will perform confirmatory testing to see if your baby actually has the genetic disorder.

Genetic testing is done on amniotic fluid through amniocentesis or the placenta via chorionic villus sampling. Alternatively, doctors can also test the embryo during in vitro fertilization (IVF).

The results of a genetic test can take from 1 to 3 weeks. After the birth, your baby must undergo newborn screening to rule out disorders that can affect their health and survival, genetic or otherwise.

Your Doctor’s Obligations

Before the genetic test, your doctor or nurse must ask you about your ancestry, family, and genetic background. Your OB-GYN must not make assumptions based on your physical appearance.

There are instances where OB-GYNs incorrectly assumed their patients’ risk for certain genetic disorders based on their apparent ethnicity, which can be considered malpractice.

If you fall into an at-risk category for genetic disorders, your doctor should offer you the option of a genetic test. Your doctor must inform you about the pros and cons of conducting the test. Along the way, they must perform proper clinical documentation to prevent medical errors.

Most tests are unobtrusive, requiring only a sample of your blood or saliva. Some tests, however, are more intrusive, requiring cells from your uterus or the fetus itself.

Genetic Test Results

Doctors must completely explain your genetic test results. They must inform the parents of what to expect and what the possible genetic disorder could entail for their unborn child.

Similarly, doctors must provide sound recommendations depending on the results, such as surgeries and therapies before or after the birth.

Genetic Counselors

As genetic testing continues to become more complex, it is impossible for all physicians to conduct genetic counseling independently. Therefore, doctors should refer their patients to certified genetic counselors if the test turns up positive.

Genetic counseling is best done by genetic counselors who can accurately determine if pathogenic genetic variants identified or other types of mutations are conclusive or not.

Take this situation, for example:

Patients received inadequate information on their results. Then, genetic counselors reinterpreted the results and found more accurate findings. Without genetic counselors to completely explain the results, patients would be left in the dark about their condition.

Furthermore, doctors must order confirmatory testing if the screening tests find a pathogenic variant. Again, your doctor or genetic counselor must conduct proper genetic counseling to educate you about the implications of the results.

Genetic Testing Challenges

Pre-natal genetic testing identifies genetic variations (“mutations”) and chromosome changes to address potential genetic disorders in an unborn baby. This type of procedure can help parents make the best decisions for their child and themselves, which could involve risk-reducing therapies and even termination.

However, there are known challenges when it comes to genetic testing. For example, there are cases involving genetic testing where:

  • Patients received incorrect information
  • Obstetricians ordered the wrong genetic test
  • Testing laboratories made errors with raw data analysis, among other challenges

In other cases, a pathogenic genetic variant may be assumed to completely interpret suspicious family histories. Pathogenic variants in moderate-risk genes should not be the basis of medical decisions.

Multiple Factors Cause Errors

These errors in genetic testing stem from multiple factors. First, not all physicians receive adequate genomics education, making way for workforce limitations. Lack of genomics education can lead to instances where pathogenic genetic variants of unknown significance are assumed to be confirmatory.

It may also lead to situations where doctors do not order appropriate testing or patients receive inadequate or no information after giving the results.

That said, nongenetics health care professionals may need to collaborate with genetic counselors when interpreting medical-grade testing results. A genetic testing adverse events study also recommends the expansion of the genetic counseling workforce and genetic counseling delivery models in hospitals to address all genetic testing cases with little room for error.

Another issue is the lack of genetic counselors brought about by health care policy barriers and limited alternative service delivery models.

Without genetic counselors to conduct raw data analysis and come up with accurate interpretations, both health care providers and patients won’t be able to maximize new genetic testing technologies.

Hereditary Cancer Predispositions

There is also the case of increased access to third-party data analysis and direct-to-consumer testing. When you undergo direct-to-consumer testing, you don’t need to see a doctor to determine if you have a hereditary cancer predisposition or risk of other inheritable diseases.

According to the general national society of genetic counselors, studies show that direct-to-consumer testing and third-party providers show a significant rate of false-positive results.

Such errors may cause confusion and unnecessary risk-reducing procedures, especially without the help of genetic counselors. Furthermore, people who undergo direct-to-consumer testing may not know that genetic counseling is even necessary.

Potential solutions involve action on multiple facets, including developing genetic counseling delivery models, better access to genetic counseling, and investigation of where multiple errors stem from in the testing process.

Genetic Testing Errors Counting as Medical Malpractice

Unfortunately, the lack of access to certified genetic counselors continues to be a problem due to workforce limitations and a lack of genetic counseling delivery models. Not having access to a genetic counselor does not count as medical malpractice, but your doctor should refer you to one, at the very least.

On the other hand, certain situations can count as medical malpractice concerning errors in genetic testing:

  • Your doctor did not order a genetic test even if you fall into an at-risk category
  • The technician misinterpreted the results
  • Your physician did not order a diagnostic test after a positive screening test
  • Your doctor failed to educate you about the implications of the genetic test
  • Your doctors failed to diagnose your child’s genetic disorder
  • Your result showed a false positive due to mishandling of the samples
  • Your doctor incorrectly assumed a false positive to be confirmatory

Medical Malpractice Lawyers for Genetic Testing Negligence

Did your doctor fail to discuss your options for genetic testing? Did they misdiagnose your unborn child or fail to diagnose them entirely? Did your doctor fail to let you know that you’re in an at-risk group for inheritable disease?

If so, you likely have legal recourse for medical negligence and malpractice. To learn more about what kind of legal recourse you may be entitled to, call our law office today at (888) 424-5757 (toll-free phone number) or complete the contact form on this page to schedule a free initial consultation.

Early diagnosis, treatment, and preparation are vital to giving your child a good start in life despite a genetic disorder. If your provider failed to give you that advantage, contact one of our birth injury attorneys today and see how you can seek the compensation your family deserves.

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