
Medical Malpractice in Genetic Testing
Attorney Natan Ron | Partner and Founder, Ron-Festinger Law Office
Medical malpractice in genetic testing includes failure to refer for genetic counseling despite a known risk - such as a family relationship between the parents, a relevant ethnic origin or a hereditary disease in the family - as well as failure to inform the parents about available tests, a misreading of a result, or failure to deliver a result to the parents. When, following such a failure, a child is born with a genetic disease that could have been diagnosed in advance, the parents may have a cause of action, including a wrongful birth claim - subject to the circumstances of each case.
Prenatal genetic diagnosis is one of the most significant tools that medicine offers parents, but it works only if a complete chain functions: identifying the risk, making the right referral, performing a suitable test, reading it accurately and delivering the result. A failure in a single link is enough for parents to find themselves facing a fact that could have been prevented.
Was your child born with a genetic disease that no one warned you about? We will examine the diagnostic chain at no cost: 077-4075002 | also available on WhatsApp
What genetic tests are available in pregnancy?
| Test | What it examines | Who it is for |
|---|---|---|
| Genetic screening for couples | Carrier status for common hereditary diseases, according to origin and family background | Recommended for all couples, preferably before pregnancy or at its start; the scope of the tests varies by origin, family history and current recommendations |
| Biochemical screening tests and nuchal translucency | Risk assessment for chromosomal syndromes | All pregnant women, as part of routine follow-up |
| NIPT / NIPS (fetal blood test) | More accurate screening for common chromosomal syndromes | By choice or recommendation, for any woman who wants more accurate screening, especially when the risk is elevated; from week 10 of pregnancy, and in most cases not covered by the health basket |
| Amniocentesis / chorionic villus sampling (CVS) | A sample from the placenta or the amniotic fluid that allows chromosomal and genetic diagnosis | According to indication: age, an abnormal ultrasound finding or screening result, an elevated risk of a genetic disorder, parental carrier status for a specific disease, or a request for an early definitive diagnosis |
| Genetic counseling | Assessment of the family risk and a tailored workup plan | In any case of family background, an abnormal finding or a genetic question |
| Karyotype | The number and structure of the chromosomes in chorionic villi or amniotic fluid, identifying large chromosomal changes | When an invasive test is performed and there is an indication for a chromosomal workup |
| Chromosomal microarray (CMA) | Small deletions and duplications of DNA segments in chorionic villi or amniotic fluid, which are not always visible in a karyotype | Especially when there is a defect or an abnormal ultrasound finding |
| Exome sequencing | Examination of a broader part of the genome | In selected cases; not a routine test in pregnancy, and performed mainly in complex cases and in suitable centers |
The duty to refer and the duty to inform
Two principles underlie legal responsibility in this field:
- The duty to refer - when there is an indication, such as a hereditary disease in the family, marriage between relatives, an origin with a high carrier frequency or an abnormal finding in ultrasound tests or anatomy scans, the treating physician must refer the patient for genetic counseling and a suitable workup
- The duty to inform - even when there is no mandatory indication, parents have the right to know which tests exist, including tests that are not in the health basket, so that they can decide for themselves whether to have them. Failure to inform that deprives the parents of an informed choice may in itself constitute negligence
Typical malpractice scenarios
- Failure to refer for genetic counseling despite a family background or a documented indication
- Failure to inform about relevant screening or diagnostic tests, including tests that are not in the health basket
- Misreading of a test result or a mistaken interpretation of a finding
- An abnormal result that was not delivered to the parents, was delivered late or was not translated into a practical recommendation
- Laboratory failure - mixed-up samples, or a partial or erroneous test
- Incomplete or mistaken genetic counseling that did not reflect the true risk or the available workup options
The connection to a wrongful birth claim
When the genetic failure leads to the birth of a child with a disease or disability that could have been diagnosed in advance, the parents may have a cause of action for "wrongful birth": a claim concerning the deprivation of the parents' right to choose, with compensation for the child's treatment costs and dependency. We discuss this cause of action, its conditions and the compensation on its dedicated page.
How is malpractice in genetic testing proven?
- Reconstructing the diagnostic chain - what the treating physician knew, what was documented about the family background, what referrals were made and what was explained
- Collecting the documentation - the pregnancy follow-up card, the test results, the consent forms and the summaries of the genetic counseling
- An expert opinion - a clinical geneticist and, as needed, an obstetrics and gynecology specialist, determine whether there was a deviation from accepted practice
- Examining causation - whether a timely diagnosis would have changed the course of events
- Assessing the damage and filing the claim
Limitation periods and deadlines
As a general rule, a medical malpractice claim becomes time-barred after seven years, and the date the damage was discovered - for example, the date the child was diagnosed with the genetic disease - may affect when the period begins. The child's own claim, where one exists, is subject to the rules for minors. Because these are parallel tracks and complex questions, we recommend seeking a legal review as close as possible to the discovery.
The experience of Ron-Festinger
Genetic malpractice cases require mastery of an evolving medical field and work with leading clinical geneticists. Ron-Festinger, which has specialized for over 44 years in medical malpractice claims in the field of pregnancy and birth, also accompanies families in these cases - with an initial examination at no cost and legal fees collected only upon success.
To arrange an initial consultation: 077-4075002 | also available on WhatsApp
An example of a genetic testing malpractice claim that our firm handled
The case below, from the firm's files, illustrates a failure at a stage where the genetic diagnostic chain had already worked as required: the risk was identified and the parents were referred for the appropriate test, but the test itself was performed negligently. Each case is examined according to its circumstances, and the outcome of one case says nothing about the outcome of another.
A known family translocation: an amniocentesis read as normal despite a chromosomal defect
When the mother was pregnant, it was known that the father carried a translocation - a defect in the structure of the chromosomes that can cause intellectual disability and various defects in the newborn. The couple's firstborn daughter also suffered from the same chromosomal defect, which caused her severe developmental and neurological impairment and various defects.
In light of this, the mother underwent amniocentesis, and the referral stated explicitly that the test was being performed because of a family translocation and a previous child with psychomotor delay. In other words, the purpose of the test was known in advance and focused on ruling out that specific defect.
The test was read as normal. However, the plaintiff was born with various defects that indicated a severe genetic problem, and a chromosome test on her blood found the same genetic syndrome from which her sister suffers - the syndrome the parents feared and that they had tried to rule out through the test.
On re-examination of the original slides of the cells taken from the amniotic fluid, the defect was clearly visible in some of the cells examined. This finding indicated that the test had been performed negligently.
The plaintiff, who suffers from a severe motor and intellectual disability and from dysmorphism, received substantial financial compensation for the negligence in performing the amniocentesis and for her damages.
Frequently Asked Questions
When is a referral for genetic counseling mandatory in pregnancy?
When there is an indication - for example, a hereditary disease in the family, marriage between relatives, an origin with an elevated carrier frequency, advanced maternal age or an abnormal finding in screening tests. Where there is such an indication, a failure to refer may constitute negligence.
We did not know that a test existed that could have detected the disease - do we have a claim?
Possibly. Parents have a right to receive information about relevant tests, including tests that are not in the health basket, so that they can decide whether to have them. If the failure to inform deprived you of an informed choice, and a child was born with a disease that the test could have detected, a cause of action may arise. It depends on the background known to the physician and on the circumstances of the case.
The test was misread - whom do we sue?
It depends on the source of the failure: the laboratory that performed the test, the genetic institute, the physician who interpreted the result or the health fund within which the treatment was provided. Sometimes responsibility is divided among several parties, and identifying the right defendants is part of the legal review.
What is the difference between malpractice in genetic testing and wrongful birth?
Malpractice in genetic testing is the failure itself - in the referral, the reading or the information given. Wrongful birth is the cause of action that may arise for the parents as a result of the failure, when a child is born with a disability that could have been diagnosed in advance. In other words: the first describes the negligence, the second the claim that results from it.
How long do we have to file a claim?
As a general rule seven years, where the date the disease was discovered may affect when the period begins, and the rules for minors apply to the child's claim. Because the calculation is complex, we recommend not waiting and seeking a legal review immediately upon discovery.
Contact Us for a Consultation
Every question about the genetic diagnostic chain in your case deserves a professional review. Initial consultation at no cost: 077-4075002 | WhatsApp | or leave your details in the form | offices in Jerusalem and Tel Aviv. Legal fees only if the claim succeeds.
The information on this page is general information only, does not constitute legal advice and is not a substitute for individual legal advice. Every case is examined according to its circumstances. For a professional assessment of your case, contact us for an initial consultation at no cost and with no obligation.
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