AI looks at JNCCN Case Study of Lynch/Ovarian Syndrome

 Here is the article:

https://jnccn.org/view/journals/jnccn/21/6/article-p588.xml

Laboratory Selection in Germline Genetic Testing:

 Laboratory Science Matters

Author: Suzanne M. Mahon

 J NCCN Volume/Issue: Volume 21: Issue 6  Online Publication Date: Jun 2023

 AI GPT4

Summarize what actually happens to the patient?  Who is the patient?  What is her problem?  What happens to her?  What goes wrong?  How does it get fixed?

ChatGPT

Absolutely. Let's delve into the details:

Who is the patient?

The patient is a woman who has a family history of Lynch Syndrome, an inherited disorder that increases the risk of many types of cancer, particularly colorectal cancer and endometrial cancer.

What is her problem?

The patient's mother was found to have a pathogenic MLH1 variant, a genetic mutation often associated with Lynch Syndrome. The patient was also tested for this mutation to determine if she had inherited the risk.

What happens to her?

Initially, the patient was tested using a 25-gene panel, and she tested negative for the MLH1 variant. However, this was due to an error: the initial test did not cover the exact location of her mother's mutation. Therefore, it falsely indicated she did not have the genetic risk for Lynch Syndrome.

What goes wrong?

The negative result of the initial test led to a false sense of security for the patient, as she believed she had not inherited the risk. Guidelines for preventative measures and early detection strategies typically implemented for people with a pathogenic MLH1 variant were not put into place, potentially putting her at risk for developing cancer.

How does it get fixed?

The error was discovered after a genetic professional was consulted. The professional recommended an appropriate test that covered the exact location of the mother's mutation, which was carried out by a reputable laboratory. The new test results confirmed that the patient did indeed have the MLH1 variant. With this accurate information, the appropriate preventative and surveillance measures could be initiated. Despite the initial distress caused by the revelation of her actual genetic risk, the patient was provided with the opportunity to mitigate this risk with surgery and intensive surveillance.

This case illustrates the critical role of genetic professionals in choosing the right tests, ensuring accurate interpretation of results, and mitigating potential medical and legal consequences of incorrect genetic testing.

KEY POINTS VIEWPOINT

This is discussing the importance of appropriate genetic testing and the roles of healthcare providers and genetics professionals in this process. This is indeed a significant subject, particularly in the context of cancer prevention and early detection. The use of genetic testing for identifying pathogenic variants, such as MLH1, can guide clinicians in determining the best course of treatment and preventative measures for patients and their families.

Key points brought up in this discussion include:

Need for Expertise in Genetic Testing: A lot can go wrong with genetic testing if it's not carried out correctly. Selection of the right test, correct interpretation of the results, and the choice of the best laboratory for testing require specialized knowledge. Thus, involving a genetics professional can be a cost-effective strategy and potentially reduce the risk of error.

Recommendations for Patients with Pathogenic Variants: For patients with identified pathogenic variants, such as MLH1, preventative measures are usually recommended starting from early adulthood. Failure to implement these guidelines due to inaccurate genetic testing results can put patients at unnecessary risk.

Liability Concerns: Medical practitioners who order genetic testing should be aware of the associated liabilities if the wrong test is ordered. Some institutions have taken steps to minimize such risks by requiring systematic review of test appropriateness by a molecular pathologist or a genetics professional.

Importance of Family Communication and Care Coordination: If a clinician orders genetic testing, they must also take responsibility for communicating potential risks to other family members and coordinating care for them. This is not just a matter of professional duty; it can also be a legal issue, with case law recognizing negligence for failure to warn family members of potential risk.

The Power of Germline Genetic Testing: Done correctly, germline genetic testing can be a powerful tool for cancer prevention and early detection in patients and their families. However, it is essential that the assessment is complete, testing is correctly ordered, and results are correctly interpreted.

It's clear that a team-based approach involving both medical and genetic professionals can greatly improve the accuracy and efficacy of genetic testing for cancer-related genes. This, in turn, can lead to better patient outcomes, earlier cancer detection, and more effective prevention strategies.