Personal genome sequencing – the next trend in healthcare?

Personal genomics, or personal genome sequencing, is becoming growingly popular. News recently broke about Angelina Jolie-Pitt having her breasts and ovaries surgically removed after discovering through personal genome sequencing that she was at risk for both breast and ovarian cancer.


 Now, it’s rumored that Kelly Osbourne may be next in surgically removing her breasts after finding out that she too is a carrier of the BRCA1 gene. Kelly decided to have her genome sequenced after her mother, Sharon Osbourne, had a double mastectomy after finding out she had the BRCA1 gene. 

Now everyone wants to know, ‘what is personal genome sequencing? And ‘should I do it?’

What is Personal Genome Sequencing?

Personal genomics has the ability to drastically change the future of healthcare because it will allow doctors to create customized preventative care and treatments. By understanding specific variants within our genetics, we can assess whether we are at risk for common diseases which can mean reduced health care costs and an innovative approach to your personal healthcare. 

What is personal genomics and why is it important?

Personal genomics is a subsidiary of genomics that sequences and analyzes the genome of an individual to determine their genotype. Sequencing is a way to read DNA molecules.

The entire human genome contains about 3 billion molecular base pairs, which scientists can map out to find variations that indicate your risk for developing certain diseases that are genetically inherited or inheritable. 

Personal genome sequencing is important becauseit helps predict the chances that a person may develop a certain disease. Specifically, it can identify whether a person has a genetic predisposition for common diseases, is a carrier for certain inherited diseases, or possesses familial traits for certain diseases. Having this information allows doctors to provide customized healthcare and ultimately, the best possible treatment and care. 

What are the benefits of personal genome sequencing?

Knowing if you are genetically predispositioned for a certain disease allows you to be more cautious about what your risk is, and about the signs and symptoms of the disease that you should be on the lookout for. As they say, ‘knowledge is power’.

Having this personal knowledge about your geneticsgives you the tools to make the best decisions about your healthcare, such as discussing with your doctorwhether you need further clinical testing for the disease.

For example, if you have a family history of breast cancer and your genome analysis determines you have either BRCA 1 or BRCA 2 mutations, thenyou know that you are at high risk for developing breast cancer and need to have regular mammograms. 

However, it’s important to note that just because you carry the gene for breast cancer, does not mean you are guaranteed to develop the disease. 

How does personal genomic sequencing reduce healthcare costs?

Currently, much of the cost of healthcare is so expensive because of the diagnostic tests and interventions patients who have a disease or illness require. Being able to prevent the disease before a person is diagnosed with it however, would significantly reduce the cost of healthcare because preventive medicine is much cheaper. For example, vaccines used to prevent infectious diseases are much cheaper than the antibiotics and other treatments necessary to cure an infection, or manage an infection that may be incurable. 

Personal genome sequencing is also becoming less expensive. Currently, it costs about $1,000 to $4,000 to map out your genome. But that’s a huge decrease in price (about 90 percent) since the first genome was sequenced in 2007 (James Watson’s, co-founder of DNA’s double-helix shape) which cost about $1 million. A number of startup companies are on their way to making personal genome sequencing more widely available. They say they will soon be able to sequence a genome for $1,000 or less and would like to eventually be able to screen people at birth to identify any genetic conditions or if they are a carrier. 

Should I have my genome sequenced?

Deciding to have your genome sequenced is a personal decision that should be discussed with your doctor and carefully thought about. If you have a personal history or family history of certain diseases, you may want to find out what or what else you may be at risk for. Here are some important ways the average healthy individual can benefit from having their genome sequenced:

• Identifying DNA variants can determine your risk for certain diseases or illnesses, which can lead to prevention, or early detection and treatment of conditions that you may not have otherwise been aware of until it was too late.

• Doctors can create a customized treatment plan; they can determine which medications or drugs will be the most effective, as well as which ones will not. 

• Couples who are thinking about having a baby can determine whether they are at risk or are carriers for certain disorders, allowing them to make the best and most responsible decision about planning a family.