Complex Made Simple

DNA testing looks to cure genetic diseases

Today, people can not only pre-empt any potential parent-inherited diseases that might impact their current lives but also somewhat predict what risks of diseases can their unborn children have

Direct-to-consumer testing is increasingly popular for determining ancestry and predisposition to certain conditions Risk assessment for hereditary diseases can be improved by robust detection of structural variants A DNA NFT made sense because on its own a genome really is a nonfungible digital asset

Today, people can not only pre-empt any potential parent-inherited diseases that might impact their current lives but also somewhat predict what risks of diseases can their unborn children have.

Also, one famed geneticist is selling his unique DNA as a Non-Fungible Token (NFT). Here’s both how and why. 

Cleveland Clinic Abu Dhabi launches genetic counseling 

UAE residents concerned about their family history or genetic disease can now access targeted DNA testing and counseling at Cleveland Clinic Abu Dhabi.

The launch of the genetic counseling service at Cleveland Clinic Abu Dhabi comes as researchers continue to uncover genetic links to diseases such as cancer, diabetes, and heart disease.  

The service offers patients deep, targeted insights into specific areas of their genome in order to assess their risk of developing certain diseases or diagnose genetic conditions. Genetic counselors work with both patients and their physicians to tailor genetic testing to their specific needs, guided by family history or medical symptoms.

“There are clear genetic markers that can increase a person’s risk of developing cancer. If we are able to detect the BRCA1 (Breast Cancer Gene 1) or BRCA2 gene mutations linked to breast cancer for example, we can take appropriate steps to manage that risk with some treatments able to reduce their risk by 90% or more,” says Dr. Stephen Grobmyer, Chair of the Oncology Institute at Cleveland Clinic Abu Dhabi.

As direct-to-consumer testing becomes increasingly popular as a means of determining ancestry and predisposition to certain conditions, the new service’s genetic counselors are keen to advise residents that without clinically guided and comprehensive testing, which means the results can be misleading.

Read: Is DNA the Next Generation of Data Backup?

Read: Ancestry sites are a booming business. Is your DNA data sold to pharma companies for $$ millions?

Structural variants help with risk assessments

Researchers at Color have analyzed 50 genes associated with hereditary cancer and cardiovascular disorders using next-generation sequencing and identified at least 828 unique structural variants, including 584 fully characterized structural variants. These findings could help improve health-risk assessments through DNA tests.

Structural variants are a clinically important class of changes in genomic DNA that typically include large stretches of DNA.

The authors noted that risk assessment for hereditary diseases can be improved by robust detection of structural variants.

Orchid, a company that helps couples have healthy babies by offering a new type of genetic test, is making it possible to quantify risks for couples who are planning to have a child in the future

Orchid recently announced a $4.5 million seed funding round as it created the first test on the market to examine the whole genome of both partners and evaluate the genetic risk of their child having common chronic diseases.   

Orchid’s Couple Report is a saliva-based genetic test that analyzes both partners’ DNA and looks for 10 diseases: breast cancer, prostate cancer, heart disease, atrial fibrillation, stroke, type 1 diabetes, type 2 diabetes, inflammatory bowel disease, schizophrenia, and Alzheimer’s disease.  

“We are able to determine how likely these 10 diseases are to impact the health of the couple’s future child,” says founder and CEO of Orchid, Noor Siddiqui. “In contrast to other genetic tests, which typically only analyze about 2% of your DNA with a genotyping chip, we analyze the entire genome. We do 100% and look at all 3 billion bases.” 

Traditional genetic testing that is still used today is carrier screening for recessive traits. It helps determine if a person is a carrier of a recessive genetic disease. Usually, they test the female partner first. If the female is a carrier, then they screen the male partner for rare variants.

What makes Orchid different is its test can check for complex diseases and not just recessive conditions.  

DNA as NFT

Famed geneticist and Harvard University professor George Church has launched a genetic sequencing service called Nebula Genomics — and the company is putting Church’s own DNA for sale as a non-fungible token (NFT).

“As one of the first genomes ever sequenced, Professor Church’s DNA carries a great deal of historical significance to the field of personal genomics as it has been used in countless studies, papers, and represents a pivotal moment in science and human history,” reads the startup’s website.

Church is outspoken about genetic science. He has advocated resurrecting mammoths, gene-hack people into superheroes, and worked on a dating app that matches people based on their genetic code. 

Co-founder Kamal Obbad, argued that an NFT made sense “because on its own a genome really is a nonfungible digital asset. And different genomes are going to have different inherent values.” For instance, a patient with a rare disease’s data would be inherently more valuable than a completely healthy person’s.