patient vus report

Some limit their reporting to variants that are considered to be causative of the phenotype, while others will report VUS when they are in genes related to the clinical question, or even candidate genes where the gene function is less certain [ 5 ].

Full Answer

Should VUS be reported to referring clinicians?

While there is no specific guidance provided by professional bodies as to whether VUS should be reported, several guidelines suggest that laboratories should have well-established policies addressing VUS, which need to be made clear to referring clinicians [ 7, 8, 9, 10 ].

Should younger family members be tested for VUS?

The laboratory can identify the VUS in those young family members, but they may be too young to say if they will develop the phenotype. In these situations, testing younger family members will not provide any evidence for reclassification,” Schleit described.

Who has the access to the patient medical report?

The health care providers have the access to the patient medical report. They keep the medical report as a history of medical records. Also, patients’ access to the patient medical report is a must.

What information should be included in a patient report?

The patient report information The date ad time when reported The patient handover (whether by land or air ambulance) The consent for medical release of information The patient’s, parent’s, or guardian’s signature

What is VUS in medical terms?

A variant of uncertain (or unknown) significance (VUS) is a genetic variant that has been identified through genetic testing but whose significance to the function or health of an organism is not known.

What does VUS mean in genetic testing?

Variants of uncertain significance (VUS) are an aspect of genetic testing that is often seen as a challenge.

Are most VUS benign?

A VUS may also be reclassified as pathogenic, but this is rare. A recent study found that 91% of reclassified variants were downgraded to “benign,” while only 9% were upgraded to pathogenic.

How common is VUS in genetic testing?

VUS are not uncommon, and patients need to be prepared for the possibility of finding one during genomic testing. In a study of 1,197 individuals undergoing NGS in 36 genes associated with hereditary breast cancer, approximately 35% have one or more VUS.

Should VUS be reported?

Rather than providing-specific recommendations about whether VUS should be reported or not, guidelines issued by professional bodies generally state that laboratories should have clearly documented protocols for the reporting of VUS to clinicians [7–10].

Is a VUS a mutation?

A “variant of uncertain significance” (VUS) is a genetic change whose impact on the individual's cancer risk is not yet known. Everyone's genes are slightly different. Some genetic changes (variants) do not affect the gene's function and therefore do not increase cancer risk.

How often are VUS reclassified?

Of note, VUS reclassification often occurs within 2 years, with a large majority among the reclassified variants being downgrades. Importantly, one in three patients with reclassified variants had clinical care recommendations modified because of the change in classification.

What does unclear clinical significance mean?

A variant of uncertain clinical significance (VUS) is a DNA change that is not yet fully understood. The VUS may be unique or may have been found in other individuals or families. Sometimes a lot of work may have been done to determine the effect of that specific DNA change.

How do you classify variants?

The American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) system for variant classification is score based with five classes: benign, likely benign, variant of unknown significance (VUS), likely pathogenic, and pathogenic.

What is pole mutation?

If you have a mutation in the POLE gene, this means you have a condition called Polymerase Proofreading-Associated Polyposis (PPAP) syndrome. PPAP syndrome increases your risk of developing polyps (growths of tissue) in your colon and rectum.

What does it mean if you have a gene variant?

A gene variant is a permanent change in the DNA sequence that makes up a gene. This type of genetic change used to be known as a gene mutation, but because changes in DNA do not always cause disease, it is thought that gene variant is a more accurate term.

What is a non pathogenic variant?

Nontruncating variants consist of single or multiple nucleotide substitutions and in-frame indels. Truncating variants, which have a more deleterious impact on gene products, are often pathogenic to diseases that are caused by loss-of-function gene products.

Abstract

There are several key unsolved issues relating to the clinical use of next generation sequencing, such as: should laboratories report variants of uncertain significance (VUS) to clinicians and/or patients? Should they reinterpret VUS in response to growing knowledge in the field? And should patients be recontacted regarding such results? We systematically analyzed 58 consent forms in English used in the diagnostic context to investigate their policies for (a) reporting VUS, (b) reinterpreting variants, including who should initiate this, and (c) recontacting patients and the mechanisms for undertaking any recontact.

Introduction

A major challenge associated with the clinical implementation of high throughput next-generation sequencing technologies (NGS), such as sequencing of exomes, genomes, and gene panels, is the large number of variants identified [ 1, 2, 3 ].

Materials and methods

In order to identify consent forms for potential inclusion, we used two complementary strategies.

Results

A total of 58 forms met our inclusion criteria. From the 58 forms, 10 were specifically for gaining consent from adult patients, 7 for pediatric patients, and 40 for either adult or pediatric patients, with one form unclear regarding in which patient group it was to be used.

Discussion

Our analysis of 58 forms used for WGS, WES, or large NGS panels shows considerable variation in policies between laboratories/clinics in the reporting of VUS, as well as how they address reinterpretation of variants, and patient recontact.

Acknowledgements

D.F.V. is a Postdoctoral Research Fellow of the Research Foundation - Flanders (FWO-Vlaanderen). E.N. has been supported by Erasmus Plus Joint International PhD Programme in Law, Science and Technology Fellowship.

Author information

Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Kapucijnenvoer 35 Box 7001, 3000, Leuven, Belgium

What is the relevant information needed for a patient complaint?

In a patient complaint, the relevant information that are needed are as follows: The description of the situation. The effect on privacy.

Why are patient reports important?

Why Patient Reports Are Needed. Patient medical reports serve as evidences that the patient has been given proper medications or treatments. Doctors or physicians are doing the best they could in order to supply the needs of each and every patient, regardless if they are in a critical condition or not.

What to do if you happen to be a relative of an injured person?

As the relative. If in case that you happened to be a relative of the injured person, the first thing to do is to calm down.

Do hospitals keep records of patients?

Therefore, it is mandatory that the medical clinic, center, or hospital keeps a record of their patients. These patient reports also help the doctors and the relatives of the patient to know what is or are behind the patients’ results of their individual health assessment.

Can results from medical assessments be given due to deficiency of relevant information?

Otherwise, results from medical assessments cannot be given due to deficiency of relevant information.

What is a Patient Medical Report?

A patient medical report is a comprehensive document that contains the medical history and the details of a patient when they are in the hospital. It can also be given as a person consults a doctor or a health care provider. It is a proof of the treatment that a patient gets and of the condition that the patient has.

What You Should Include in a Patient Medical Report

A patient medical report has some important elements that you should not forget. Include all these things and you can learn how to write a patient medical report.

Importance of a Patient Medical Report

The reason why a patient medical report is always given is because it is important. Here, you can know some of the importance of a patient medical report:

How to Write a Good Patient Medical Report

A doctor is a doctor. They are not writers. They can be caught in a difficulty on how to write a patient medical report. If this is the case, turn to this article and use these steps in making a patient medical report.

Who Writes the Patient Medical Report?

Health care providers do the patient medical report. The health care professionals make the documentation for a patient. It includes all the physicians, nurses, and doctors of medicine. It also includes the psychiatrists, pharmacists, midwives and other employees in the allied health.

Who Can Have Access to a Patient Medical Report?

The health care providers have the access to the patient medical report. They keep the medical report as a history of medical records. Also, patients’ access to the patient medical report is a must. It is their right to see their medical report. It is against the law not to show them their medical report.

Is a Patient Medical Report a Legal Document?

If it is signed by a health care professional, then it is a legal document. It is permissible in any court of law. It is an evidence that the patient is under your care. Thus, it can be used in court as an essential proof. So, keep a patient medical report because you may need it in the future.

What Is a Patient Care Report?

We often hear of care reports based on by medical teams or by medical authorities. Yet, we are not sure how this differs from the kind of report that is given to us by the same people. So this is the time to make it as clear as possible.

How to Write a Patient Care Report?

Where do you even begin when you write a patient care report? A lot of EMS or EMTs do know how to write one since they are trained to do so.

What is a patient care report?

A patient care report is a document made mostly by the EMS or EMTs. This documented report is done after getting the call. This consists of the information necessary for the assessment and evaluation of a patient’s care.

What should not be written in a patient care report?

What should be avoided in a patient care report is making up the information that is not true to the patient. This is why you have to be very careful and very meticulous when writing these kinds of reports. Every detail counts.

Who is in charge of reading the patient care report?

The person or the people who will be reading the report are mostly medical authorities. When you are going to be passing this kind of report, make sure that you have all the information correctly. One wrong information can cause a lot of issues and problems.