As per the Organization of Rare diseases in India (ORDI), 1 in 20 Indians is affected by a rare disorder. More than 7,000 rare diseases are known and reported worldwide; from these approximately 80 per cent are known to have a genetic predisposition. Some of these common rare diseases weve heard of are inherited cancers (eg. breast, ovarian, and colorectal etc.), hemoglobinopathies (hemophilia, thalassemia, and sickle cell anemia etc.), auto-immune deficiencies, and lysosomal storage disorders among others, says Dr Aparna Dhar, head of department: medical genetics and genetic counselling, CRE Diagnostics.
In the year 2020, the world has undergone massive changes. It has made us introspect and re-evaluate our lives. Weve started looking after our wellbeing by addressing issues associated with mental health and physical health. Weve consciously tried to bring about lifestyle changes that have been coupled with teaming up with healthcare/diagnostic providers to give us a more personalised approach. One key way of doing this is by understanding if they have a genetic pre-disposition to a hereditary disorder, she adds.
A global study conducted by the Mayo Clinic, USA stated that 1 in 10 people who underwent predictive genetic testing, learned that they had a hereditary risk for a health condition and could actually benefit from preventive care. While no genetic test can accurately predict the exact date and time a disease may present, it will definitely be able to tell if an individual is at a higher risk vs the general population risk.
However, Dr Dhar says that there is definitely a lack of awareness around these genetic disorders, misconception about genetic diseases and testing, taboo talking about a potential familial disorder, and cost challenges.
Below, she addresses some of these:
What is a genetic test?
Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a persons chance of developing or passing on a genetic disorder. More than 1,000 genetic tests are currently in use, and more are being developed. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue.
For example, a procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder. The laboratory reports the test results in writing to a persons doctor or genetic counselor, or directly to the patient if requested.
How should one prepare for genetic testing?
Genetic testing can provide important, life-saving information. Interpreting the results is critical. It can be difficult for a medical doctor to understand the result if they dont have specialized training in genetics. Thats why genetic counselors exist. They are trained in both medical genetics and counseling and work closely with your doctor to provide both clinical and emotional advice. They are available to guide, to make sure if you are a good fit for the test and help interpret results. Whereas for some, they might have second thoughts and might not recommend genetic testing as it is not for everyone. While there is perceived stigma of resulting to some disease or bad gene still lies, a counselor will help you understand what the results mean for you and your family.
What useful information can genetic testing provide?
*Genetic testing can provide clarity on the results, guide therapy selection and monitoring, and allow disease risk profiling*Family health history tells you which diseases run in your family*Identify risks due to shared genes*Understand better what lifestyle and environmental factors you share with your family*Understand how healthy lifestyle choices can reduce your risk of developing a disease
The results of genetic tests are not always straightforward, which often makes them challenging to interpret and explain. Therefore, it is important for patients and their families to ask questions about the potential meaning of genetic test results both before and after the test is performed. When interpreting test results, healthcare professionals consider a persons medical history, family history, and the type of genetic test that was done.
A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein of interest. Depending on the purpose of the test, this result may confirm a diagnosis, indicating that a person is a carrier of a particular genetic mutation, identify an increased risk of developing a disease (such as cancer) in the future or suggest a need for further testing. Because family members have some genetic material in common, a positive test result may also have implications for certain blood relatives of the person undergoing testing. It is important to note that a positive result of a predictive or pre-symptomatic genetic test usually cannot establish the exact risk of developing a disorder. Also, health professionals typically cannot use a positive test result to predict the course or severity of a condition.
A negative test result means that the laboratory did not find a change in the gene, chromosome, or protein under consideration. This result can indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic mutation, or does not have an increased risk of developing a certain disease. It is possible, however, that the test missed a disease-causing genetic alteration because many tests cannot detect all genetic changes that can cause a particular disorder. Further testing may be required to confirm a negative result.
In some cases, a test result might not give any useful information. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. Uninformative test results sometimes occur because everyone has common, natural variations in their DNA, called polymorphisms that do not affect health. If a genetic test finds a change in DNA that has not been associated with a disorder in other people, it can be difficult to tell whether it is a natural polymorphism or a disease-causing mutation. An uninformative result cannot confirm or rule out a specific diagnosis, and it cannot indicate whether a person has an increased risk of developing a disorder. In some cases, testing other affected and unaffected family members can help clarify this type of result.
Path to well-being
Genetic testing is not limited to only helping from a preventive and proactive perspective, but for those affected with disease; there is a shift to personalised medicine paradigm of disease modeling and targeted gene therapy which has yielded excellent results. In addition, the data from the Human Genome Project has helped us understand the stratification of genes as per their penetrance levels and in turn, help us give a personalised risk assessment to our patients.
Excerpt from:
Genetic testing: Everything you need to know - The Indian Express
- Trump and Musk are obsessed with genetics but theres no science behind their simplistic views - The Guardian - January 1st, 2025 [January 1st, 2025]
- From Stonehenge's origins to ice age baby genetics how well did you follow this year's top archaeology stories? - Livescience.com - January 1st, 2025 [January 1st, 2025]
- William Thilly, MIT genetics professor who invented Apple Jacks cereal, dies at 79 - The Boston Globe - January 1st, 2025 [January 1st, 2025]
- Is Atossa Genetics (ATOS) Stock Outpacing Its Medical Peers This Year? - Yahoo Finance - December 23rd, 2024 [December 23rd, 2024]
- With 54% ownership, Fulgent Genetics, Inc. (NASDAQ:FLGT) boasts of strong institutional backing - Yahoo Finance - December 23rd, 2024 [December 23rd, 2024]
- Using the PERC Database to Gather Insights on Epilepsy Genetics: Julie Ziobro, MD, PhD; John Schreiber, MD - Neurology Live - December 23rd, 2024 [December 23rd, 2024]
- Myriad Genetics' Breakthrough Cancer Test Named Top 10 Genomic Advance by Leading Journal - StockTitan - December 23rd, 2024 [December 23rd, 2024]
- Redecan Cannabis Launches New Limited-Edition Genetics and Expands Signature 'Wrapped & Redee' Pre-roll Line for the Holidays - Yahoo Finance - December 23rd, 2024 [December 23rd, 2024]
- Surprising yields, impressive genetics and an early harvest in 2024 Ohio Ag Net - Ohio's Country Journal and Ohio Ag Net - December 9th, 2024 [December 9th, 2024]
- Using music to help people with dementia; supporting breastfeeding radiologists; genetics and Type 2 diabetes; plus other news stories with VUMC... - December 9th, 2024 [December 9th, 2024]
- Genetics and suicideWhats the link? - Genetic Literacy Project - December 9th, 2024 [December 9th, 2024]
- Genetics is all fun and games for a Rochester card game creator - Rochester Post Bulletin - November 28th, 2024 [November 28th, 2024]
- Community engagement conduct for genetics and genomics research: a qualitative study of the experiences and perspectives of key stakeholders in Uganda... - November 28th, 2024 [November 28th, 2024]
- Dietary restriction interventions: lifespan benefits need resilience and are limited by immune compromise and genetics - Nature.com - November 28th, 2024 [November 28th, 2024]
- Texas A&M Researchers Uncover Secrets Of Horse Genetics For Conservation, Breeding - Texas A&M University Today - November 20th, 2024 [November 20th, 2024]
- Myriad Genetics Announces Prequel Prenatal Screening Can Now be Performed Eight Weeks into Pregnancy - GlobeNewswire - November 20th, 2024 [November 20th, 2024]
- Fulgent Genetics, Inc. (FLGT): Among the Best Genomics Stocks to Buy Right Now - Yahoo Finance - November 20th, 2024 [November 20th, 2024]
- Precision mutational scanning: your multipass to the future of genetics - Nature.com - November 20th, 2024 [November 20th, 2024]
- Advancements of Haploid Technology in Crops: New Horizons in Breeding and Genetics - Frontiers - November 20th, 2024 [November 20th, 2024]
- Toward advances in retinoblastoma genetics in Kenya - Nature.com - November 12th, 2024 [November 12th, 2024]
- CRISPR/Cas9 screens identify key host factors that enhance rotavirus reverse genetics efficacy and vaccine production - Nature.com - November 12th, 2024 [November 12th, 2024]
- Genetics Play Key Role in Animal Health and Welfare, Aggression and Handling - Farms.com - November 12th, 2024 [November 12th, 2024]
- Episode 174: Rudy Tanzi talks about genetics, aging and the hallmarks of Alzheimers - IHMC - October 26th, 2024 [October 26th, 2024]
- Ocuphire and Opus Genetics merge to develop IRD gene therapy - Pharmaceutical Technology - October 26th, 2024 [October 26th, 2024]
- The RD Fund Announces Ocuphire Pharma's Acquisition of Opus Genetics - PR Newswire - October 26th, 2024 [October 26th, 2024]
- The RD Fund Announces Ocuphire Pharma's Acquisition of Opus Genetics - WV News - October 26th, 2024 [October 26th, 2024]
- Faculty of Science | Protecting Canadas number one crop through genetics - UM Today - October 26th, 2024 [October 26th, 2024]
- Ocuphire and Opus Genetics merge to develop IRD gene therapy - Yahoo Finance - October 26th, 2024 [October 26th, 2024]
- Opinion | Fascinated by genetics? Where are the peas Trump made to fornicate? - The Washington Post - October 13th, 2024 [October 13th, 2024]
- Dietary restriction can extend lifespan but genetics matters more - Nature.com - October 13th, 2024 [October 13th, 2024]
- 'They have much stronger players' - Bangladesh assistant coach bizarrely blames 'genetics' for lack of six hitters in the team - Sporting News - October 13th, 2024 [October 13th, 2024]
- Medical Moment: Genetics and breast cancer with USA Health Genetic Counselor Cassie Gurganus - AOL - October 13th, 2024 [October 13th, 2024]
- Myriad Genetics Announces Five Research Collaborations to Study the Use of MRD Testing in Breast Cancer - Yahoo Finance - October 13th, 2024 [October 13th, 2024]
- An ideologically-based and misleading critique of how modern genetics is taught - Why Evolution Is True - October 13th, 2024 [October 13th, 2024]
- 2024 Mercedes-AMG C63 Review: Bold But Beholden to Its Genetics - Newsweek - October 2nd, 2024 [October 2nd, 2024]
- Myriad Genetics Announces Third Patent Granted for Molecular Residual Disease (MRD) with Early Priority Date - GlobeNewswire - October 2nd, 2024 [October 2nd, 2024]
- Digbi Health Launches an SEC-regulated Offering, Giving Millions the Opportunity to Invest in Groundbreaking Genetics and Gut Microbiome-based Care... - October 2nd, 2024 [October 2nd, 2024]
- The role of genetics in depression | Second Opinion - KCRW - September 23rd, 2024 [September 23rd, 2024]
- Tilapia genetics company Spring Genetics teams up with UK data firm to improve fish welfare - SeafoodSource - September 23rd, 2024 [September 23rd, 2024]
- Picky eating in kids is mostly due to genetics, study says - Motherly Inc. - September 23rd, 2024 [September 23rd, 2024]
- Research Shows That Fussy Eating In Children Is Mainly Influenced By Genetics - RTTNews - September 23rd, 2024 [September 23rd, 2024]
- Genetics colloquium: Chris Hittinger on the genomic making of metabolic niche breadth Sep. 11 - University of WisconsinMadison - September 15th, 2024 [September 15th, 2024]
- NIH Recognizes Yales Expertise in the Genetics of Rare Diseases - Yale School of Medicine - September 15th, 2024 [September 15th, 2024]
- SOPHiA GENETICS and AstraZeneca Collaborate to Further Expand Global Access to Liquid Biopsy Testing - PR Newswire - September 15th, 2024 [September 15th, 2024]
- Medicines race dilemma: What science says about genetics and health [PODCAST] - Kevin MD - September 15th, 2024 [September 15th, 2024]
- Researchers want to unlock genetics of the worlds tiniest animals - Popular Science - September 15th, 2024 [September 15th, 2024]
- Sophia Genetics and AstraZeneca collaborate to expand liquid biopsy test rollout - Medical Device Network - September 15th, 2024 [September 15th, 2024]
- From farm to future: Technology in genetics - National Hog Farmer - September 2nd, 2024 [September 2nd, 2024]
- Editorial: Plant biotechnology and genetics for sustainable agriculture and global food security - Frontiers - September 2nd, 2024 [September 2nd, 2024]
- NSF Grant Brings Genetics Opportunities to Students in Alabama - Government Technology - September 2nd, 2024 [September 2nd, 2024]
- SBUs Ben Luft brings Lyme expertise to seminal paper on bacterial genetics and evolution - TBR News Media - September 2nd, 2024 [September 2nd, 2024]
- SOPHiA GENETICS to Present at the 22nd Annual Morgan Stanley Healthcare Conference and 9th Annual TD Cowen FutureHealth Conference - PR Newswire - September 2nd, 2024 [September 2nd, 2024]
- Singapores National Precision Medicine (NPM) Programme Engages Oxford Nanopore to Advance Understanding of the Genetics of Singapores Multi-Ethnic... - August 5th, 2024 [August 5th, 2024]
- Fulgent Genetics Second Quarter 2024 Earnings: Beats Expectations - Yahoo Finance - August 5th, 2024 [August 5th, 2024]
- Stopped clinical trials give evidence for the value of genetics - Nature.com - August 5th, 2024 [August 5th, 2024]
- What is DSD? Sex genetics and Olympic boxing controversy - Washington Examiner - August 5th, 2024 [August 5th, 2024]
- Fulgent Genetics Q2: Core Revenue Grows, but Profitability Is Still an Issue - The Motley Fool - August 5th, 2024 [August 5th, 2024]
- Viewpoint: Challenging yet another scientifically silly article claiming Black domination of sprinting and long distance running has nothing to do... - August 5th, 2024 [August 5th, 2024]
- Texas Company Trying To Resurrect Woolly Mammoths To Improve Genetics Of Bison - Cowboy State Daily - August 5th, 2024 [August 5th, 2024]
- Genetics confirms Berbers reached North Africa over 20,000 years ago; Arabs came in 7th Century CE - Down To Earth Magazine - August 5th, 2024 [August 5th, 2024]
- Unlocking plant genetics with telomere-to-telomere genome assemblies - Nature.com - July 26th, 2024 [July 26th, 2024]
- Carlo Ancelotti claims Jude Bellingham's 'genetics' are main reason behind Real Madrid & England superstar's meteoric rise to the top - Goal.com - July 26th, 2024 [July 26th, 2024]
- Genetics-based modeling estimates Idaho's wolf population was 1,150 in summer 2023 - Idaho Fish and Game - July 26th, 2024 [July 26th, 2024]
- Lung Cancer Research Foundation Joins Lung Cancer Advocacy Organizations and 23andMe to Launch Lung Cancer Genetics Study to Advance Research - PR... - July 26th, 2024 [July 26th, 2024]
- Fulgent Genetics (FLGT) Scheduled to Post Earnings on Friday - Defense World - July 26th, 2024 [July 26th, 2024]
- SOPHIA GENETICS Announces Expanded Relationship with Canada-Based OncoHelix - Financial Times - July 26th, 2024 [July 26th, 2024]
- LG Household & Health Care publishes research into the genetics of skin tone - GlobalCosmeticsNews - July 26th, 2024 [July 26th, 2024]
- Estonians gave their DNA to science now they're learning their genetic secrets - Nature.com - June 27th, 2024 [June 27th, 2024]
- Genetic clues to depression revealed in large study - PsyPost - June 27th, 2024 [June 27th, 2024]
- Move Over, Genghis Khan. Many Other Men Left Huge Genetic Legacies - Smithsonian Magazine - June 27th, 2024 [June 27th, 2024]
- 3X4 Genetics Selected as Partner for Preeminent Cancer Research and Treatment Nonprofit, The Metabolic Terrain ... - BioSpace - June 27th, 2024 [June 27th, 2024]
- NIFA Invests $6M in Animal Breeding, Genetics and Genomics | NIFA - National Institute of Food and Agriculture - June 27th, 2024 [June 27th, 2024]
- Arbel Harpak: Pursuing the Next Frontier in Genetics | Dell Medical School - Dell Medical School - June 27th, 2024 [June 27th, 2024]
- Coffee habits are partly linked to genetics, UC San Diego researchers say - NBC San Diego - June 27th, 2024 [June 27th, 2024]
- Advanced genetic tools help researchers ID new neurodevelopmental syndrome - Yale News - June 27th, 2024 [June 27th, 2024]
- Nutritious diet may protect against type 2 diabetes, regardless of genetics - News-Medical.Net - June 27th, 2024 [June 27th, 2024]
- Genome-wide association study identifies host genetic variants influencing oral microbiota diversity and metabolic ... - Nature.com - June 27th, 2024 [June 27th, 2024]
- Unlock the Secrets of Your DNA with Advanced Genetic Testing - North Forty News - June 27th, 2024 [June 27th, 2024]
- Modern and precise: Using gene editing to change the blueprint of an organism - Beef Magazine - June 27th, 2024 [June 27th, 2024]
- The 'gene deserts' unravelling the mysteries of disease - BBC.com - June 27th, 2024 [June 27th, 2024]