What Is Genetic Testing?

Genetic testing is the process of examining our genetic makeup to detect disease-causing mutations that may be passed on to future generations. If you think you may be at risk for an inherited disease, genetic testing can help inform a roadmap for care.

Why Is Genetic Testing Important?

Genetic Test Results Can Help Inform a Roadmap For Care

For people who may be at risk for or have already been diagnosed with a potentially inherited disease – or for those whose symptoms have gone undiagnosed despite years of searching for answers – the importance of clinical genetic testing cannot be overstated.

Why? Because discoveries made possible through genetic testing may be actionable, and they could directly inform how your healthcare team manages your medical care, now and in the future.

How Do I Know If I Need Genetic Testing?

The Importance of Knowing Your Personal and Family Medical History

There are a great number of inherited diseases, ranging from the extremely rare to those that appear with higher frequency and are better understood. The specific criteria for determining if genetic testing would be beneficial for you or a family member depends on the type of disease that is reflected in your family medical history.

Where do I go for Genetic Testing?

A VISIT TO YOUR HEALTHCARE PROVIDER OR THE GENETIC DEPARTMENT AT SAHYADRI HOSPITAL IS THE FIRST PLACE TO START

If you have any signs of hereditary cancer in your family, a discussion with your healthcare provider to review your concerns and family history is your next step. Your healthcare provider may refer you to a CLINICAL GENETICIST or Genetic Counselor to discuss genetic testing. While going through your physician is the best way, you can also directly consult the department of Medical genetics at Sahyadri hospital, PUNE

The Sahyadri Medical Genetics Team is Here for You.

Sahyadri Medical Genetics department comprises clinical geneticist, scientists, genetic counselors, and healthcare providers who share an unwavering commitment to improving the lives of patients at risk for or suffering from inherited diseases.

Over the past two decades, we have dedicated ourselves and our mission to the advancement of clinical genetic testing, and have been consistently recognized for our leadership in the field.

Hereditary Cancer Genetic Testing

Why Is This Important? benefits of genetic testing

Knowing if your patient has hereditary cancer can help you determine their future cancer risks and guide your medical management recommendations. Key benefits include:

  • Ability to modify frequency and initial age of mammogram/breast MRI, colonoscopy, or prostate cancer screening
  • Consideration of prophylactic mastectomy, colectomy, or other risk-reducing measures, as appropriate
  • Ability to tailor chemotherapy strategies and/or determine eligibility for clinical trials
  • Identification of at-risk family members

At-Risk Patients – finding whether your patients who may need genetic testing and genetic counselling

  • multiple cancers
    • 3 or more family members with HBOC1 or Lynch syndrome2 cancers on the same side of the family*
    •  2 or more primary HBOC1 or Lynch syndrome2 cancers in the same person
    •  10 or morecolorectal polyps
  • young cancers
    • any of the following cancers diagnosed <50y: Breast, colorectal, uterine
  • rare cancers
    • personal or family history of any of the following: Male breast cancer, ovarian cancer
  • ancestry
    • both Ashkenazi Jewish ancestry and history of HBOC cancers1

 Hereditary Breast Cancer Testing

 Knowing if your patient has hereditary cancer can help you determine their future cancer risks and guide your medical management recommendations. Key benefits include:

  • Ability to modify frequency and initial age of mammogram and breast MRI
  • Consideration of prophylactic mastectomy or other risk-reducing measures, as appropriate
  • Availability of tailored treatment options (e.g. PARP inhibitors for BRCA1/BRCA2)
  • Identification of at-risk family members


 Hereditary Colorectal Cancer Testing

Knowing if your patient has hereditary cancer can help you determine their future cancer risks and guide your medical management recommendations. Key benefits include:

  • Ability to modify frequency and initial age of colonoscopy and other surveillance options
  • Consideration of colectomy or other risk-reducing measures, as appropriate
  • Ability to tailor chemotherapy strategies and/or determine eligibility for clinical trials
  • Identification of at-risk family members


RED FLAG’s/Signs of Hereditary Cancer – (for patient awareness..)

If you have a blood relative who has tested positive for a genetic mutation causing inherited/hereditary cancer

Or

If you or any of the family member has had:

  • Cancer of the Pancreas, ovaries, fallopian tubes, primary peritoneal or male breast cancer at any age
  • Breast, colorectal or endometrial cancer at age 50 or younger
  • Two separate cancer diagnosed in same patient
  • A type of breast cancer called “triple-negative breast cancer” at age 60 or younger
  • Prostate cancer at age 55 or younger or metastatic prostate cancer
  • Colorectal cancer at any age with tumor testing that shows microsatellite instability

(MSI-High) 

  • Endometrial cancer at any age with tumor testing that shows microsatellite instability

(MSI-High)

  • More than 10 colon polyps
  • Rare cancers or young-onset cancers
  • Tumor testing that shows a mutation in a gene associated with hereditary cancer

Cardiovascular Genetic Testing Reference Guide

with or at risk for inherited heart disease - 

If your patient has any of the following, genetic testing may be considered:

Diagnosis

  • Hypertrophic cardiomyopathy (HCM)
  • Non-ischemic dilated cardiomyopathy (DCM) of unknown etiology
  • Long QT syndrome (LQTS)
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT)
  • Thoracic aortic aneurysm/dissection
  • Suspected or known Marfan syndrome
  • Suspected or known familial hypercholesterolemia (FH)

 family history

  • 2+ relatives (same side of family) with cardiomyopathy, sudden unexplained death, aortic aneurysm and/or hypercholesterolemia

Diagnostic Confirmation - Genetic testing can clarify a diagnosis in your patient suspicious for an inherited heart disease.

Individualized Management - If a gene mutation is found in your patient, this allows for specific cardiovascular management and treatment (such as avoiding/adjusting statin use) which can be lifesaving. This can be based on the confirmed diagnosis or even the gene mutation

Risk Assessment - All at-risk relatives need cardiovascular screening. They can also have genetic testing for the known family mutation to confirm their risk. Those that do not have the mutation can opt out of further cardiovascular screening for the inherited heart disease.

Chromosomal microarray analysis (CMA) is a type of genome-wide test designed to detect copy number variants (CNV), which lead to imbalances (extra or missing regions) in the chromosomes. CNVs can be the underlying cause of syndromic or non-syndromic developmental delay, intellectual disability, autism spectrum disorders, distinctive features, birth defects, other congenital anomalies, and numerous genetic syndromes. CMA has performed via array comparative genomic hybridization (CGH), which compares an individual’s DNA with a reference to detect missing or extra regions of genomic material across all 46 chromosomes in a single test. This type of analysis can find imbalances that even a high-resolution karyotype analysis would miss.


Benefits of Chromosome Microarray Analysis

  • Detection of aneuploidies, CNVs and all known microdeletion/microduplication syndromes across the genome
  • Detection of microdeletions/microduplications involving one or more genes in patients negative for point mutations or small alterations within these genes.
  • Superior resolution over traditional chromosomal analysis, allowing for detection of smaller CNVs (100 – 300kb* versus 4 – 10Mb**)
  • 5x greater diagnostic yield over traditional chromosome analysis (15-20% versus 3%) for patients with unexplained developmental delay, intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies1
  • A cost-effective approach for testing individuals with certain clinical indications, including chronic kidney disease, congenital heart defects and infantile spasms

SNP Array Highlights

In addition to its ability to detect CNVs, SNP Array is also useful for the identification of potential ROH and UPD. SNP probe coverage allows for:

  • Detection of ROH may indicate that consanguinity is involved
  • Detection of risk for UPD, relevant to conditions like transient neonatal diabetes mellitus, Beckwith-Wiedemann syndrome, Prader-Willi syndrome, Angelman syndrome, and Russell-Silver syndrome

Sahyadri ‘Sahaj’ Genetic clinic - Who should consult?

  • High risk on double/triple quadruple marker
  • Three or more abortions/pregnancy loss/Infertility
  • Baby with malformations/abnormalities 
  • Any history of any hereditary disease – eg Cancers, Sickle cell anemia, Thalassemia, etc
  • For pre-marital, pre-conceptional genetic counselling
  • Cancer at young age
  • Many people in a family affected with cancer

Sahyadri “Sahaj” Cancer Genetic Clinic ...Genetics simplified!!

Cancer Statistics in India 

  • Estimated number of people living with the disease: around 2.25 million
  • Every year, new cancer patients registered: Over 11,57,294 lakh
  • Cancer-related deaths: 7,84,821
  • All cancers together contributed 5·0% (95% UI 4·6–5·5) of the total DALYs and 8·3% (7·9–8·6) of the total deaths in India in 2016, an increase of 90·9% and 112·8% respectively from 1990.
  • The estimated number of incident cancer cases in India increased from 548 000 (95% UI 520 000–576 000) in 1990 to 1 069 000 (1 043 000–1 101 000) in 2016.
  • The crude cancer incidence rate in India increased by 28·2% (95% UI 19·9–35·5) from 63·4 per 100 000 in 1990 to 81·2 per 100 000 in 2016
  • 1 in 8 women are at risk of developing breast cancer as estimated by WHO.
  • 1 in 70 women have a lifetime risk of developing ovarian cancer. One fourth of these women have a hereditary predisposition to develop ovarian cancer 
  • India accounts for the third highest number of cancer cases among women after China and the US, and is growing annually at 4.5-5 percent

Hereditary cancers, comprise five to 10 percent of all cancers. There are several known inherited syndromes that can greatly increase the risk for certain kinds of cancer.

Are you genetically predisposed to the risk for certain types of cancers? 

In some families, a change or mutation in the DNA, predisposes those who carry it to developing certain cancers. These gene with fault can be passed down from parent to child over generations.

“Sahaj” is the first Cancer Genetics Clinic in Maharashtra and is the only one staffed by a qualified and trained clinical geneticist with DM degree in the specialty of Medical Genetics. “Sahaj” will work individually with each patient to develop a strategic approach to risk assessment, genetic screening as appropriate, early detection, risk reduction and prevention and research opportunities.

Genetic testing can alleviate fear, stress and anxiety in people who find they do not carry these genes with defect that may lead to cancers. It could also be a lifesaver. 

Patients who know their cancer risk are better informed and can make important decisions about screening, treatment and preventive surgery, which may reduce cancer risk and cancer’s impact on one’s life.

If a patient has already been diagnosed breast cancer, ovarian cancer, or colon cancer, knowing whether this cancer is inherited can direct treatment decisions.

“Sahaj” will help you identify if you have inherited cancer risks. We will help you understand whether your family members should be assessed for a genetic pre-disposition to certain types of cancer. But more importantly, at Sahaj we will help you know what to do with this information.

Genetic counseling is typically recommended for individuals who are diagnosed with cancer at a very young age and for families with multiple cases of cancer. If you are interested in learning about your hereditary risk for cancer, we encourage you to schedule an appointment.


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