Questions of Genome Privacy and Protection

In April 2018, law enforcement officials announced the arrest of a suspect in the Golden State Killer case (New York Times ). Shortly after the announcement, those same law enforcement officers explained that detectives had used a public forensic genealogy web site to help identify the killer.

What does it mean when a law enforcement agency accesses a public genetic genealogy database to search for a suspect in a crime? Continue reading

The Age of the Genome: Commercial DNA Sequencing, Familial Searching and What We Are Learning

Crowd of people at the street, city center

All of these people are 99% the same at the genomic level. The individuals of the human species are far more alike than different.

There are 3 billion (3,000,000,000) bases in my genome—in each of the cells of my body. Likewise, Johanna, the writer who sits next to me at work also has 3 billion bases in her genome. Furthermore, our genomes are 99% the same. Still, that’s a lot of places where my genome can differ from hers, certainly enough to distinguish her DNA from mine if we were both suspected of stealing cookies from the cookie jar. The power of discrimination is what makes genetic identity using DNA markers such a powerful crime solving tool.

The completion of the human genome project in 2003 ushered in a tremendously fast-paced era of genomics research and technology. Just like computers shrank from expensive, building-filling mainframes to powerful hand-held devices we now call mobile phones, genome sequencing has progressed from floor-to-ceiling capillary electrophoresis units filling an entire building to bench top sequencers sitting in a corner of a lab. The $99 genome is a reality, and it’s in the hands of every consumer willing to spit into a tube.

Commercial DNA sequencing services are promising everything from revealing your true ancestry to determining your likelihood to develop dementia or various cancers. Is this progress and promise or is it something more sinister?

As it turns out, that isn’t an easy question to answer. What is probably true is that whole genome sequencing technologies are being put into the hands of the consumer faster than society understands the ethical implications of making all of this genomic information so readily available. Continue reading

A Cold Case, A Mystery, and DNA

“How do you like the name Jack?” the woman on the phone asked.

41731849 - soft focus and blurry of baby hands vintage style color effectOn April 26, 1964, a nurse came into the hospital room of Dora Fronczak, who had just given birth to her young son, Paul. She told Mrs. Fronczak that it was time to take the baby to the nursery (at that time newborns did not stay in the room with the moms), took the baby, and left. A few hours later, another nurse came into the room to take young Paul to the nursery. It was then that everyone realized a mother’s worst fear: Her infant had been stolen.

Authorities were able to determine how the woman left the hospital and that she got into a cab, but they were never able to find the woman. However in 1965, a small toddler-aged boy was found, abandoned outside a store in New Jersey. Blood tests were not inconsistent with him being Paul Fronczak (DNA testing was not available), and there were no other missing children cases in the area that were matches. The little boy was sent to Chicago as Paul Fronczak and the case was closed.

However, as an adult Paul Fronczak, began to suspect that the couple who raised him were not his biological parents, and in 2012 Paul underwent DNA analysis to test his suspicions. The results showed that indeed, he was not the biological son of Dora and Chester Fronczak. His next step was to enlist the help of a genetic genealogist to assist him in finding his true biological parents and his identity.

By conducting “familial searches” using commercially available DNA databases like 23andMe and AncestryDNA and many resources, the genealogist’s group found a match to his DNA on the east coast. Further ground work, discovered that this family was indeed Paul’s…now Jack.

The knowledge of Jack’s true identity, didn’t bring with it a joyous union of the adoptive family who had raised and loved Jack (as Paul) with the biological family who had pined for him over the years as many might imagine. Continue reading