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 4/27/2018 ). 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 “Questions of Genome Privacy and Protection”

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

A Cold Case, A Mystery, and DNA Databases

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

41731849 - soft focus and blurry of baby hands vintage style color effect

On 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 groundwork, 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 “A Cold Case, A Mystery, and DNA Databases”

Familial Searching Solves Cold Cases—At What Cost?

A cold case that had stumped investigators for nearly 41 years was solved last month. The 1976 sexual assault and murder of Karen Klass, ex-wife of Righteous Brother’s singer Bill Medley, shocked her Hermosa Beach, CA community and captured the public interest. Failing to make any arrests for decades, detectives were able to use DNA evidence to eliminate suspects in 1999 but were unable to find a database match. In 2011, investigators decided to try a new technique called a familial search and, after a few attempts, successfully identified the perpetrator.

DNA-Handcuffs-double-exposure-R2

Familial searching (FS) involves taking a DNA profile obtained from a crime scene and comparing it to profiles in CODIS and other databases to identify male relatives. The DNA profile of an immediate family member, such as a sibling, parent or child, can provide a match that generates new leads for law enforcement. Detectives can then collect additional evidence to narrow down that new pool of individuals to a single suspect.

Last May I wrote a blog featuring a Q & A about FS provided by Mr. Rockne Harmon, a respected member of the forensic community and passionate advocate for FS. Supporters, like Harmon, and opponents agree that this method of obtaining matches to DNA evidence has demonstrated scientific precision and successful outcomes, as in the Klass case. However, it is still considered controversial and most states have not implemented specific policies regarding the application of FS to criminal investigations. So why isn’t the use of FS more widespread?

Continue reading “Familial Searching Solves Cold Cases—At What Cost?”

Familial DNA Searching for Criminal Forensics: Q&A

When DNA evidence is collected at a crime scene, submitting the sample for a search within a DNA database does not always identify a profile match. There is a way to extend that search and generate leads, called familial searching (FS). FS is used to identify close biological relatives of an unidentified DNA profile obtained as evidence. The basic premise is that DNA profiles of immediate family members, such as siblings, parents, or children, are likely to have more alleles in common than unrelated individuals. These familial profile matches can generate new investigative leads for law enforcement.

Currently, a few states are using FS under their state database laws, although none explicitly permit FS. Many agencies have yet to adopt policies related to FS, even though it has been found to be as effective as CODIS for identifying sources of evidence. The absence of clear ethical guidelines and policy regarding how to properly utilize FS prevents many local and state jurisdictions from adopting this investigational tool.

In order to address concerns and existing policies related to FS and to guide policy decisions by agencies implementing FS, the National Institute of Justice (NIJ) issued the report Familial DNA Searching: Current Approaches in January 2015. The goal of the report was to provide information to policy makers, law enforcement officials, forensic laboratory practitioners, and legal professionals about how FS is being applied within the criminal justice realm.

Mr. Rock Harmon, former prosecutor
Mr. Rockne Harmon, former prosecutor

Answers to the following questions about FS were provided by Mr. Rockne Harmon, a retired former prosecutor and member of the team that produced the report for the National Institute of Justice.

What is familial DNA searching?

Familial searching (FS) is an additional search of a DNA profile in a law enforcement DNA database that is conducted after a routine search fails to identify any profile matches. The FS process attempts to provide investigative leads to agencies engaged in the pursuit of justice by identifying a close biological relative of the source of the unknown forensic profile obtained from crime scene evidence.

Continue reading “Familial DNA Searching for Criminal Forensics: Q&A”