DDLJ 2.0: A Modern Love Story in the Era of Genomics
Imagine 2030. You read it right, only a few years away.
A full-scale wedding preparation is underway at the Malhotra residence. In anticipation of the wedding of her daughter (Simran) to her life's love, Raj, Mrs. Malhotra runs from one place to another with excitement.
Raj and Simran are deeply in love. But is love sufficient? Why did they choose a "genome-patri" matching instead of the “janam-patri” that was traditionally done?
Mrs. Malhotra describes this to Mr. Singh, their neighbor:
Mr. Singh: Aree, Mrs. Malhotra, How are you feeling? Raj as a son-in-law is a true blessing, well-educated, and works for an established company too! Also, Simran saved you the hassle of searching for someone!
Mrs. Malhotra: Hahaha, well, thank God or else finding a groom these days is a real hassle. The big day is just here and we are all very happy.
Mr. Singh: Oh, these young people, always at the salon and gym, right?
(Both laugh merrily)
Mrs. Malhotra: No, This young generation has taken it to the next level. Salons and gyms are not the only crazes anymore. Simran and Raj are going to visit the research institute - College of Genomics, and a genetic counseling firm.
(Mrs. Malhotra laughs while Mr. Singh is shocked)
Mr. Singh: Whaaaat are you saying, Mrs. Malhotra? A research institute and whaaat? Did the boy want Simran to change her appearance, DNA, why?? And what is couns…..uhh.. ? What?
(Mrs. Malhotra laughs at her friend’s disbelief and explains to him in detail)
Mrs. Malhotra: So this was their joint decision to get a pre-marriage genetic screening test done. They want to know what diseases run in families, and what traits their future children are going to inherit. So they opted for a matching of “genome-patri” instead of the traditional “janam-patri” that we used to have in older times.
(Mr. Singh’s eyes become moist)
Mr. Singh: Oh god! This is so important and expected of Simran to be intellectually sound. After all, she has a Ph.D.! But, so much has changed since our time, right? Nowadays kids are so smart and want to be in charge of everything that is in their control! I better be ready with my Prem’s “Patri” for his wedding next year.
(Both friends laugh as they walk towards the kitchen for a cup of tea)
Simran holds a Ph.D. in Genomics and understands the nuances of the field. She vividly remembers, there was a family, who had lost their 2y old child with Intellectual disability. It took 2 more pregnancies (including an abortion) to be able to test the fetus and deliver a healthy baby. Also, she understood then that there are a few conditions that are even treatable. So if detected early on, it allows for intervention and treatment.
That is the power of Genomics, right? It can deliver results fast and in cases of fatal or health conditions that worsen, time is of the essence. Getting the results promptly and being able to connect to resources can literally save someone’s life.
Simran and Raj eventually decided to take the DNA test.
Let’s go back, a month ago, to understand how Simran explained to Raj about Genomics and the test.
Simran: Raj, before we delve into the test specifics, let's understand the basics. Every cell in our body knows what to do because of DNA, which acts as a blueprint for our bodies. The DNA is made up of four letters: A, T, G, and C. These letters are organized into chromosomes, which are like folders, and genes, which are like files. Each gene has two versions called alleles that we inherit from each parent.
Sometimes, there can be a change in the DNA code called a variation, which can cause inherited diseases.
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Raj, almost looking astonished, tells Simran, "You teach so well!"
Simran giggles,"Hum Science se hai!”
There’s more.
So, a carrier is a person who can pass on a genomic variant associated with a disease but doesn't exhibit symptoms themselves. With each pregnancy, there's a chance that a child will be born with the disease if both parents are carriers.
Raj: I see, so tomorrow we'll find out if we're carriers or not?
Simran: Yes, it's nerve-wracking but at least we'll be better prepared.
Jump to present: At the College of Genomics
Researcher: Good morning, Raj and Simran. How are you? I'll explain the DNA test you'll be taking and how it works.
Raj: I'm a bit nervous. I want to make sure we're doing everything we can to have a healthy family.
Simran: I agree. I've done some research, but I'm curious to understand more.
Researcher: So, we'll be looking at variations in your DNA that may or may not have an impact on your health or potential children. We've studied large groups of people's DNA to understand the prevalence of genetic disorders in India through the IndiGen study, a few years ago. Simran, you were also a part of it right?
Simran smiles and nods a yes: So, by looking at the frequency of certain genetic variations in a population, you can understand how likely it is to cause disease.
Researcher: Exactly. Our specialists will evaluate the results and take into account any known family or medical history and make recommendations.
Simran: We're a bit anxious but excited to have this information and make informed decisions.
Researcher: I'll go over any concerns before the test. Ready to proceed?
Raj: Yes, let's do it, but what exactly will our genetic report tell us?
Researcher: Your genome patri will say something like, "You have a 1 in 4 probability of getting Y disorder and a greater likelihood of X disorder than 60% of the population." A genetic counseling session will be conducted once the test is done.
Raj and Simran now confidently yet cautiously provide a saliva sample to be sent for further analysis.
A couple of days later...
Simran and Raj sat nervously in the genetic counselor's office, holding hands tightly as they waited for the results of their test.
Suddenly, the counselor walked in with a smile on her face. "I have some good news, Your test results show that you are not carriers of any genetic variants associated with genetic diseases."
Simran and Raj let out sighs of relief and smiled at each other.
She continued. "This is great news, you both can be assured that you have a low risk of passing on any genetic condition.”
As Simran and Raj left the office, they couldn't help but feel a sense of optimism. They had received good news, and they knew that they could plan for their future with confidence. But as Simran thought about her research on genomics of intellectual disability (most common reason for child health admissions), she couldn't help but think about the families out there who may not be as fortunate. She knew that there was still so much to learn about the genetics of intellectual disability, and she felt a renewed sense of passion to continue her work. She turned to Raj and smiled, knowing that with him by her side, they could accomplish anything. And as they walked hand in hand toward their future, they wondered about the endless possibilities that genomics held for addressing genetic diseases.
When they joyfully informed their parents upon returning home, Mrs. Malhotra yelled in delight,
"Jaa Simran jee le apni zindagi!"
This love story had a modern twist, and along with Preeti their child, they lived happily ever after!
Our lab works on a variety of aspects in the field of Genome Informatics. My research looks into understanding the Genomics of Intellectual Disability. I carry out systematic analysis of samples using microarrays and further sequencing. We are using global population-scale genomes (IndiGen project which completed ~1000 genomes from self-declared healthy Indians) to get useful insights into the genetic epidemiology of genetic causes of Intellectual Disability. We hope that our research would lead to a better understanding and management of Intellectual Disability, and improve the lives of many individuals and families affected by it. We also hope that our work will pave the way for more personalized and effective treatments in the future. Through our research, we strive to make a meaningful impact in the field of genomics and healthcare.
