The promises and perils of widespread full genome sequencing

Genomic sequencing has come a long way in the last few decades.

Sequencing the first full human genome took nearly 13 years and $2.7 billion to accomplish. In comparison, a genome was sequenced in a record-breaking three hours and 57 minutes in 2025.

In recent years, both exome sequencing, which reads out only the protein-coding portions of genes, and whole genome sequencing, which maps out the entirety of a person’s DNA including noncoding portions called introns, have become increasingly common, particularly in cases where clinicians want to test for a rare or new genetic disorder. In June 2025, the American Academy of Pediatrics recommended exome or genome sequencing as a first-line test for children with certain developmental delays or intellectual disabilities, for example.

On the other hand, targeted multigene panels focusing just on genes with a supported link to a disease are the standard in lung-cancer biomarker testing, as linked genes are already known.

To understand more about genome sequencing’s present and future possibilities, we caught up with Philip Connors, president-elect of professional group the National Society of Genetic Counselors and lead genetic counselor of the Boston University Medical Group.

This interview has been edited for length and clarity.

Do you think it’s realistic to say genome sequencing will become widely available in the future?

I think it’s a really hard question to answer. I certainly can envision a future where someone’s genetic information has been sequenced and is available in their medical record, so that you can personalize someone’s healthcare and identify those who have preventable diseases that we could intervene on—prevent the onset of a cancer or prescribe medications that will work better. There’s a lot of promise around what readily available access to someone’s genetic information could mean.

On the flip side…there are certainly concerns about what widespread availability of genetic information means.

What concerns are there about widespread availability?

I would name data privacy as one: Who owns genetic data and who protects the privacy and confidentiality of that genetic data, whether that’s done in a clinical setting, a research setting, or a commercial setting. I think the concerns around protections for health insurance, life insurance, and employment, when you identify what could be called a preexisting condition from a genetic test, are certainly some things that we need to consider. There are some laws in states and across the United States that provide some protection, but those will likely need review and updating if genomic sequencing becomes widespread.

What other obstacles could prevent genomic testing from becoming more widespread?

Drawbacks still remain around the infrastructure that we have to review these results, store them in medical records, be able to reaccess them, and use the information. And there’s some personnel and clinical infrastructure problems. For instance, genetic counseling by genetic counselors is not reimbursed by all 50 state Medicaid programs or by the Medicare program, and so not everybody actually has access to the providers who can help you interpret these results and contextualize them in your family and in your life. So I think there’s a lot of promise in the technology. I think we still have a lot of work to do in the infrastructure to implement that technology.

Are there concerns about having enough genetic counselors to meet demand if genetic and genomic testing does become more common?

The profession of genetic counseling is growing, actually, quite rapidly. It’s expected that within a number of years there’ll be over 10,000 genetic counselors across the United States. [There were 4,200 genetic counselor jobs in 2025, according to the Bureau of Labor Statistics.]

But currently, genetic counselors largely work in clinics, in academic medical centers, where the lack of high-quality reimbursement can be absorbed by other means. And so there’s a lack of genetic counselors in rural healthcare settings; there’s a lack of genetic counselors in community hospital settings where a lot of people will be receiving their clinical care…I think that’s the larger threat.