2024-01-11

Speeding Time to Diagnosis for Rare Disorders: A Comprehensive Guide

Rare chromosome disorders encompass a spectrum of conditions resulting from atypical chromosomal arrangements, deletions, duplications, or alterations. Unlike more common genetic anomalies, these disorders occur infrequently, making their identification and classification a very daunting task for healthcare professionals, simply because most clinicians don’t see them often and aren’t familiar with their presentations. 

This lack of familiarity can severely delay diagnosis – it takes an average of five to nine years for people living with rare disorders to get the correct diagnosis. However – as with all diseases and disorders – early diagnosis is critical to proper management and enhanced quality of life. 

In this blog, we’ll explore the complexities of diagnosing rare chromosome disorders, highlight how to better detect the early signs of chromosomal abnormalities in your clinic, plus offer tips for creating an effective care plan for patients.

The Challenge of Chromosomal Abnormalities

Chromosome abnormalities vary widely and are often elusive due to their differing names and infrequent occurrence. Common chromosomal disorders include trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). Yet, there exists a multitude of other conditions that are rarer and bear different names.

Detecting the Early Signs of a Chromosomal Abnormality

Chromosomal abnormalities encompass a wide spectrum of genetic variations that can manifest in various ways, making early detection essential to effective patient care. Due to their variety and uniqueness, abnormalities can be difficult to discern immediately, however some common signs should raise red flags. They include:

Delays in developmental milestones: Failure to thrive or delays in achieving developmental milestones such as sitting, crawling, walking, or speech milestones may signal underlying chromosomal anomalies.

Abnormal Physical Features and Growth Patterns: Distinctive facial characteristics, abnormal limb lengths, unusual head size, or disproportionate growth patterns may hint at underlying chromosomal anomalies.

Cognitive and Behavioural Differences: Cognitive and behavioural differences might manifest as intellectual disabilities, learning difficulties, behavioural challenges, or psychiatric conditions and could be indicative of chromosomal abnormalities.

Tests to Help Confirm Diagnosis 

If you suspect a chromosomal abnormality, there are a number of tests available to help confirm a diagnosis. Options include:

Karyotype Test

The karyotype test involves looking at individual blood or skin cells under a microscope and can help identify genetic problems as the cause of a disorder or disease. It’s crucial for determining mosaicism (when patient has two or more sets of cells that differ genetically from one another) and is effective for determining how many cells actually have a chromosome abnormality and how many cells have normal chromosomes. 

Microarray Test

Microarray tests are efficient tools for recognizing the number of gene copies with a thousand times more precision than karyotype tests, and are quickly becoming a first-tier genetic test. 

Efficacy of both Karyotype and Microarray tests depend on aspects such as the location and size of the genetic change and has no direct correlation with their impact on phenotype.

Fluorescence In Situ Hybridization (FISH)

FISH is a specialized molecular technique used to detect specific chromosomal abnormalities. It involves labeling specific DNA sequences with fluorescent probes that bind to complementary sequences on chromosomes. This targeted approach aids in identifying particular chromosomal anomalies, such as deletions or translocations, however you must know what you’re looking for for this test to be effective. (i.e., If you use FISH to probe for the centromere of chromosome 21 because you suspect a Down’s syndrome, but the child had trisomy 18, you wouldn’t see it because you’re just looking for the number of probes or fluorescent signals in any one cell for chromosome 21.)

Role of Genetic Counsellors

Understanding genetic tests and their results can be a complex task, often requiring specialist input. Genetic counsellors are well-versed in navigating the intricacies of genetic reports; their guidance based on specific lab results is invaluable in this context. Almost all labs have genetic counsellors on staff whose role is to help you interpret any abnormality you discover. They can also provide condition-specific information and guidance on referrals. With only about 10 percent of genes linked to the condition having an established cause or consequence, the knowledge provided by these professionals is invaluable.

Creating a Custom Care Plan

Once you have a diagnosis, you’re encouraged to dedicate time familiarizing yourself with the specific chromosomal anomaly in question. This is a patient you are likely going to see often, and the investment of time up-front will be crucial to helping preempt potential issues before they arise in the future. 

Parent support groups are a helpful resource for information, fostering connections, and providing support for families dealing with rare conditions. Empower parents to join you in actively looking for new information that you can review together to determine the best care plan. Ensuring everyone is actively committed to learning supports improved  patient outcomes.

Sharpen your skills around diagnosing rare disorders. Take our free course, Reducing the Time to Diagnosis: Chromosome Abnormalities, and get expert advice on recognizing early symptoms of chromosome abnormalities and steps to optimize patient management. 

 

Not an MDBriefCase member? Join today for free to access hundreds of accredited continuing medical education courses.

 

 

Author Agreement

In submitting your work (the “Work”) for potential posting on the MDBriefCase Healthcare Leadership Academy website (the “Website”), you (“You”) expressly agree to the following:

Review: MDBriefCase is pleased to consider the publication of Your Work on the Website.   The suitability of the Work for posting shall be determined by MDBRiefCase at its sole discretion. Nothing herein shall obligate MDBriefcase to post or otherwise publish the Work, or the maintain its posting in future.   

Editing; Identification: MDBriefcase shall have the right to edit the Work to conform to our standards of style, technological requirements, language usage, grammar and punctuation, provided that the meaning of the Work is not materially altered.  If posted, You will be identified as the author of the Work, or co-author if applicable.  

Grant of Rights:  As a condition of publication and for no monetary compensation, You hereby grant to MDBriefCase the following rights to the Work in any and all media whether now existing or hereafter developed, including print and electronic/digital formats:  (1) the exclusive right of first publication worldwide;  (2) the perpetual non-exclusive worldwide right to publish, reproduce, distribute, sell, adapt, perform, display, sublicense, and create derivative works, alone or in conjunction with other materials; (3) the perpetual non-exclusive worldwide right to use the Work, or any part thereof, in any other publication produced by MDBriefCase and/or on MDBriefCase’s website; and (4) the perpetual non-exclusive worldwide right to use the Work to promote and publicize MDBriefCase or its publications.  The grant of rights survives termination or expiration of this Agreement.    

Warranty:  You warrant that the Work is original with You and that it is not subject to any third party copyright; that You have authority to grant the rights in this Agreement; that publication of the Work will not libel anyone or infringe on or invade the rights of others; that You have full power and authority to enter into this Agreement; that the Work has not been published elsewhere in whole or in part; and that You have obtained permission from the copyright owner consistent with this Agreement for any third party copyrighted material in the Work.  This warranty survives termination or expiration of this Agreement.

Submission Agreement

Thank you for your interest in writing an article for the MDBriefCase Healthcare Leadership Academy website.

Audience and Appropriate Topics

The  Healthcare Leadership Academy welcomes submissions on all topics relevant to leaders in healthcare. Our topics include Leading in Healthcare, Leadership Lessons from COVID-19 and others. We prioritize stories that provide leadership advice to executives and managers in healthcare companies, offer actionable strategies for executing successful projects, and provide interesting angles on current healthcare topics. Submissions must be original work of the authors and unpublished.  When submitting, authors represent that they have included no material that is in violation of the rights of any other person or entity.

Parameters

Articles must be educational and non-promotional. If they mention the author’s company or any of the company’s products or services by name within the text, such mention should be very limited and used for reference only, not for promotion. (For example, an author might cite a survey conducted by his company but not describe his company’s product as a solution to a business problem.) Articles will be edited for clarity, style and brevity. The final headline is determined by the editor.

Length of Submissions

Guest articles for the MDBriefCase Healthcare Leadership Academy may run between 500 and 1000 words. 

Review

MDBriefCase reserves the right to accept or reject any submission  and the right to condition acceptance upon revision of material to conform to its criteria.   

No Compensation

There is no payment for contributed articles. However, MDBriefCase will give the author a byline. Authors are invited to link to the article on personal  websites, corporate websites and social media platforms.

Author Agreements

Each author understands and agrees that any submission accepted for posting is provided subject to MDBriefCase’s Author Agreement