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The Future of Health: Why Genetic Testing Matters

Posted on by suraj chaudhari

Empowering Health Decisions: How Genetic Testing Can Guide You

The Power of Genes: Exploring Genetic Testing Options

Genetic testing may be useful in determining whether an individual has a genetic condition or may develop one in the future.

Our body is made from millions of tiny cells. Each cell is controlled by thousands of genes. We have over 20,000 genes which are in every cell of our body and serve different functions.

As we get older, we develop mutations within our genes – some are caused by outside factors like smoking or sun damage, while others happen at random. Genetic testing identifies changes in our genes or chromosomes, that are called mutations or variants.

Genetic testing has potential benefits, whether the results are positive or negative. Getting tested may:

  • help you better understand your risk of cancer
  • relieve your anxiety or uncertainty about disease risks like cancer, diabetes
  • help you make decisions about your health and learn ways to help lower your risk of diseases
  • help other family members decide if they should get tested or learn about how to lower their risk of certain diseases
  • lead to finding cancer earlier when treatment is most likely to work better

When it comes to health and disease — and, of course, many other aspects of life — one thing is certain: genes matter.

Types of Genetic Tests and Why Are They Important?

There are many kinds of genetic tests. Limitations to that, there is no single genetic test that can detect all genetic conditions.

The approach to genetic testing is individualized based on your medical and family history and what condition you’re being tested for.

Single gene testing. Single-gene tests look for changes in only one gene. Single-gene testing is done when your doctor believes you or your child have symptoms of a specific condition or syndrome that is well-established for single-gene disorder. Some examples of this are Duchene muscular dystrophy and sickle cell disease. Single-gene testing is also used when there is a known genetic mutation running in a family.

Panel testing. A panel genetic test looks for changes in many genes in one test. Genetic testing panels are usually grouped into categories based on different kinds of medical concerns. Some examples of genetic panel tests are low muscle tone, short stature, or epilepsy. Panel genetic tests can also be grouped into genes that are all associated with a higher risk of developing certain kinds of cancer, like breast or colorectal cancer, etc.

Large-scale genetic or genomic testing. There are two different kinds of large-scale genetic tests.

  • Exome sequencing looks at all the genes in the DNA (whole exome) or just the genes that are related to medical conditions (clinical exome).
  • Genome sequencing is the largest genetic test and looks at all of a person’s DNA, not just the genes.

Exome and genome sequencing are ordered by doctors for people with complex medical histories. Large-scale genomic testing is also used in research to learn more about the genetic causes of conditions.

Comparison and benefits of Gene testing:

Genetic testing is the key to understanding our genes, providing a window into our past, guiding our present health decisions, and illuminating a path toward a healthier future.

BRCA Genes: Understanding Your Risk for Cancer

Posted on by suraj chaudhari

Deep DIVE into BRCA Genes: Function, Variants, and Impact on Cancer

The BRCA Mutation Landscape: Understanding Variants and Their Effects

BRCA is one of the well-studied tumour suppressor gene. There are two BRCA gene one is BRCA1 and another is BRCA2. BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair.

BRCA1 gene encodes a 190 kD nuclear phosphoprotein, this gene contains 22 exons spanning about 110 kb of DNA. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. BRCA1 mutations in the germline have become a hallmark for hereditary breast and ovarian cancers. The BRCA2 gene was found on chromosome 13q12.3 in human.

Newer dimension of studies could relate that pathogenic germline variants and clinically significant somatic mutations of HRR genes turn cancer cells susceptible to PARP inhibitors (PARPi) and other evolving targeted therapies. Testing HRR genes for genetic variants has thus acquired greater importance in risk stratification and treatment decision-making.

BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.

The screening/diagnosis of BRCA1- and BRCA2-associated HBOC is considered in a person by identification of a heterozygous germline pathogenic variant in BRCA1 or BRCA2 on molecular genetic testing.

Breast cancer is one of the most common type of cancer in women it accounts for 12.5% of all new annual cancer cases worldwide. About 13% (1in 8) of U.S., women develop invasive breast cancer in the course of their life (1).

However, many other factors may play an important role in increase the risk of cancer, such as smoking, chemical exposure, alcohol consumptions etc.

In the US in 2023, invasive breast cancer will be diagnosed in an estimated 297,790 women and 2,800 men, with an additional 55,720 cases of ductal carcinoma in situ (DCIS) diagnosed in women. As per the American cancer society: “Cancer Facts & Figures 2023” An estimated 43,700 breast cancer deaths (43,170 in women, 530 in men) will occur in 2023. The breast cancer death rate among females high in 1989 and has since declined by 43% as of 2020, credit goes to earlier detection through screening mammography, as well as increased breast cancer awareness and improved treatment. This decrease translates to approximately 460,000 fewer breast cancer deaths during this time period than would have been expected in the absence of this progress. However, mortality rates in Black women remain about 40% higher than in White women, despite lower incidence (1).

Everyone has BRCA1 and BRCA2 genes. This codes for proteins that plays an important role in repairing damaged DNA. Mutated BRCA1 at ~55-65% high risk of cancer where normal patient getting cancer risk is only 12%. In case of mutated BRCA2 cancer risk is ~45%. Individuals with BRCA gene mutations tend to be diagnosed with more aggressive cancer at a younger age, often within 30s-40s.

How this test will help me?

Studies showed evidence that people with BRCA gene mutations have such significantly increased risks of breast and ovarian cancer, thus, testing for BRCA gene mutations strong step in personalizing cancer screening and risk management based on genetic risk factors. Individuals with a strong family history of breast and/or ovarian cancer are generally referred by their doctor to a genetic counsellor. This helps them to understand a detailed family medical history and use mathematical models to estimate that individual’s personal cancer risk.

What if I am found to be positive for BRCA mutation?

A person having a positive pathogenic mutation in BRCA gene typically undergo more frequent screening for breast cancer, usually mammogram and MSI every year. There are even evidences, Some women with BRCA gene mutations and a strong family history of cancer decide to undergo preventive mastectomies and oophorectomies (removal of ovaries) to reduce their future risk of developing cancer. This was very well noticed during Angelina Jolie’s decision on her mastectomy. With her public noticed awareness for BRCA positive condition (3).

What technique is best for testing?

Testing of BRCA is done by specialized genetic testing. Traditionally it was done by amplifying the copy of gene, followed by Sanger’s sequencing. Still this technique is considered as gold standard. However, this technique might be time consuming and for somatic condition in tissue, we might not be able to detect low mutation content level due to technique limitations. Recent addition of the newer techniques such as massively parallel sequencing/Next generation sequencing have allowed scientist to utilized its benefit to move towards the precision medicine dependent therapeutic approach (4).

What is HRR & why HRR testing is required?

Posted on by suraj chaudhari

Understanding Homologous Recombination Repair (HRR) and Its Testing Importance

Delving into HRR: A Cellular Mechanism for DNA Repair

Homologous recombination and DNA repair (HRR) are crucial for genome maintenance. Homologous recombination DNA repair is a process by which double-stranded DNA breaks and inter strand crosslinks use sister chromatids as a template for repair, thus it helps in removing DNA damage in an error-free fashion. The deficiency in the HRR pathway leads to Homologous recombination deficiency (HRD) that is associated with several tumor types like breast, ovarian, prostate, and pancreatic cancers.

Why HRR testing is required?

Poly (ADP-ribose) polymerases (PARPs) are members of related enzymes that catalyze the transfer of ADP-ribose to target proteins. PARP1 and PARP2 play an important role in maintaining genomic stability by mediating DNA repair processes. Among the PARP families, PARP1 shows abundant expression compared to the others and is responsible for most of the cellular PAR formation.

Newer dimension of studies could relate that pathogenic germline variants and clinically significant somatic mutations of HRR genes turn cancer cells susceptible to PARP inhibitors (PARPi) and other evolving targeted therapies. Testing HRR genes for genetic variants has thus acquired greater importance in risk stratification and treatment decision-making.

PARPi are targeted therapy drugs that interact with PARP enzyme in the cells, where they interact with the NAD+ binding site. This helps in the inactivation of PARP thereby inhibiting cell growth and cell death. This targeted therapy reduces the side-effect too.

US FDA-Approved PARP inhibitors available for treatment:

Olaparib (Lynparza)

Talazoparib (Talzenna)

Rucaparib (Rubraca)

Niraparib (Zejula)

Why HRR testing is required?

PARP enzymes are integral to the base excision repair pathway, where it repairs the single-strand breaks in DNA. The unrepaired single-strand breaks result in the formation of double-strand breaks, which are repaired through the HRR pathway as mentioned above.

Deficiency in synthetic lethality is a mechanism through which the PARP inhibitors target the tumor cells selectively. The preferential targeting of tumour cells thereby spares the healthy cell, thus providing the patients with benefits that are not achievable through conventional chemotherapy. This help the clinician to decide on the targeted therapy option for patient whether the patient is eligible for PARP inhibitor therapy and increases the chance to fight the cancer with FDA approved PARP inhibitors.

The Benefits of Doctor on Call Services for Busy Professionals in Dubai

Posted on by SEO TEAM

Benefits of Doctor on Call Services for Busy Professionals in Dubai

Step into an era of home healthcare designed for the fast-paced lives of busy professionals in Dubai with “Doctor on Call Services“. Tailored to your hectic schedule, where time is a luxury and schedules are relentless, maintaining good health often takes a backseat for busy professionals. These services deliver experienced medical expertise to your door. Join us in exploring the intersection of convenience and care, reshaping your approach to health. Immerse yourself in wellness with this blog! 

The Need for Doctor on Call Services

It’s more important than ever to have timely and easily accessible healthcare services in Dubai, where wealth is frequently equated with a busy lifestyle. The specific challenges faced by working professionals might make it difficult for them to prioritize their health, which is why Lifenity’s Doctor on Call service is so revolutionary.

Challenges Faced by Busy Professionals in Accessing Healthcare:

  • Time Constraints and Demanding Schedules
  • Traffic and Commuting Hassles
  • Coordinating appointments within packed calendars

The Importance of Timely Medical Consultation:

  • Preventive Healthcare at Your Fingertips
  • Stress-free Access to Mental Health Support
  • Early Detection for Effective Intervention

Benefits of Opting for On-Call Doctors

Opting for on-call doctors from Lifenity ushers in a multitude of benefits tailored for your convenience and well-being.

  1. Time Efficiency: Say goodbye to long waits at clinics. On-call doctors provide immediate consultations, saving you valuable time.
  2. Personalized Care: Enjoy one-on-one attention. On-call doctors offer personalized consultations, addressing your specific health needs comprehensively.
  3. Emergency Support: In urgent situations, on-call doctors ensure swift response and guidance, providing a sense of security during medical emergencies.
  4. Chronic Condition Management: Managing chronic conditions becomes seamless with regular on-call check-ups, ensuring consistent monitoring and timely adjustments to your treatment plan.
  5. Comfort of Home: Experience healthcare in the comfort of your home. On-call doctors eliminate the need for travel, allowing you to focus on your health without the stress of commuting.
  6. Reduced Stress: On-call services minimize the stress associated with accessing healthcare. Receive prompt and professional medical attention without the hassle.
  7. Enhanced Well-Being: Prioritize your well-being effortlessly. On-call doctors empower you to take charge of your health with convenient, accessible, and high-quality medical care.

Opting for doctors on call is more than a service; it’s a transformative home healthcare experience designed to cater to your lifestyle and ensure your health remains a top priority.

How to Choose the Right Doctor on Call Service in Dubai

Selecting the right Doctor on Call service in Dubai is crucial for ensuring your healthcare needs are met with professionalism, reliability, and personalized attention.

  •  Accreditation and Qualifications:  Verify the credentials of the on-call doctors. Ensure they are qualified, licensed, and affiliated with reputable medical institutions.
  • Range of Medical Services: Assess the breadth of services offered. A comprehensive range ensures that your diverse health needs can be addressed conveniently.
  • 24/7 Availability: Opt for a home health care service that provides round-the-clock availability. Emergencies don’t wait, and having access to medical assistance at any hour is paramount.
  • Technology Integration: Explore the technological aspects of the service. A platform that integrates technology for seamless appointments, virtual consultations, and electronic health records adds to the overall convenience.
  • Patient Reviews and Testimonials: Look for feedback from others. Positive reviews and testimonials reflect the service’s reliability and the satisfaction of each individual.
  •  Confidentiality and Privacy: Prioritize a service that ensures the confidentiality and privacy of your medical information. Robust privacy measures contribute to a trustworthy doctor-patient relationship.
  • Coverage Area: Confirm the coverage area of the service. Ensure that it aligns with your location and that on-call doctors can easily reach you in case of emergencies.
  • Customized Approach: Choose a service that emphasizes a personalized approach to healthcare. Tailored medical attention ensures your unique health requirements are adequately addressed.
  • Customer Support: Evaluate the accessibility and responsiveness of customer support. A service with efficient customer support adds an extra layer of reliability.

By carefully considering these factors, you can make an informed decision when choosing a Doctor on Call service in Dubai that aligns with your healthcare expectations and preferences.

Tips for Maximizing the Benefits of Doctor on Call Services

Embarking on the journey of utilizing Lifenity’s innovative Doctor on Call services opens up a world of healthcare convenience tailored to your busy lifestyle. To ensure you make the most of these services, here are some valuable tips to consider:

1. Scheduling Appointments Effectively:
  • Plan Ahead: Given the flexibility of on-call services, plan your appointments in advance. This helps you secure a slot that aligns seamlessly with your schedule.
  • Utilize Technology: Leverage Lifenity’s online platform or helpline for efficient appointment scheduling. Embrace the convenience of digital communication to streamline the process.
2. Communication with On-Call Doctors:
  • Be Transparent: When scheduling appointments, communicate your health concerns and preferences clearly. Transparency ensures that the on-call doctor can cater to your specific needs effectively.
  • Prepare Questions: Before the consultation, jot down any questions or concerns you may have. This helps make the most of your time with the healthcare professional.
3. Emergency Situations and On-Call Services:
  • Understand Emergency Protocols: In emergency situations, familiarize yourself with Lifenity’s emergency protocols. Knowing the steps to take ensures a swift and appropriate response.
  • Keep Contact Information Handy: Save Lifenity’s emergency contact information in easily accessible places. In critical moments, quick access to this information can make a significant difference.
4. Regular Health Check-ups:
  • Prioritize Preventive Care: While on-call services offer convenience for immediate concerns, don’t neglect regular health check-ups. Schedule routine appointments for preventive care and overall well-being.
  • Set Reminders: With busy schedules, it’s easy to forget upcoming appointments. Set reminders on your phone or use Lifenity’s notification services to stay on top of your healthcare schedule.

Maximizing the benefits of Lifenity’s Doctor on Call services involves a proactive and communicative approach. By following these tips, you can navigate healthcare with ease, ensuring that your well-being remains a top priority in the midst of your busy lifestyle. Your health, your schedule, and the expertise of Lifenity’s healthcare professionals – a combination designed to elevate your healthcare.

Frequently Asked Questions (FAQs):

How do I schedule a Doctor on Call service with Lifenity?

Scheduling a Doctor on Call is simple. Call +971 800 54 25 to book an appointment at your preferred time from the comfort of your home.

Are the doctors at Lifenity qualified and licensed?

Absolutely. Our medical professionals are highly qualified, licensed, and experienced. We ensure that you receive top-notch medical care from trusted professionals.

What medical services can I expect during a Doctor on Call visit?

Our Doctor on Call services cover a wide range of medical needs, from routine check-ups and consultations to minor treatments. Our doctors are equipped to handle various health concerns at your convenience.

Is the Doctor on Call service available during holidays and weekends

Yes, Lifenity's Doctor on Call services operate 24/7, including holidays and weekends. Your health is our priority, no matter the time or day.

Integrating Doctor on Call Services into Your Busy Schedule

In the fast-paced metropolis of Dubai, Lifenity’s Doctor on Call services stands as a beacon of health, bridging the gap between busy schedules and well-being. As we conclude, remember that your health is an invaluable asset, and prioritizing it shouldn’t be a luxury. With Lifenity, accessibility, expertise, and personalized care converge to redefine home healthcare. Seize the convenience, embrace the flexibility, and let Lifenity empower you to live your life to the fullest – because a healthier you is a more empowered you. Choose Lifenity and elevate not just your health but your entire lifestyle in the heart of Dubai.

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