Collecting Reference Samples

During the World Trade Center (WTC) DNA identification project, a software program that estimates whether a specific kinship sample will benefit the identification was explored. For example, suppose buccal swabs have been collected from a victim’s father and sister. Will collecting DNA from the victim’s grandson help meet the statistical threshold for making an identification? Charles H. Brenner, Ph.D., developed such a program to assist in the WTC identification efforts.

The Victim Identification Program (VIP) is software developed by the Disaster Mortuary Operational Response Teams (DMORT), a program of the U.S. Department of Homeland Security, to collect victim information. VIP contains approximately seven pages of victim-related data, tailored for making mass fatality incident identifications. This information (primarily non-DNA-related) is gathered by DMORT personnel or collection center officials through interviews with the victims’ families. Although the families generally complete the printed VIP forms with the aid of family assistance centers, it is possible for the process—if well organized and well financed—to be done via computers.

Currently, there are no standards that govern the collection of reference samples (i.e., personal items and kinship samples) from families. Historically, DNA laboratories have designed forms used in the collection process on an ad hoc basis—and, in some situations, forms have been designed on-the-fly, hours before they have been put into use. Two sample forms provided may be helpful:

It may be important to also keep in mind:

  • Family members are under extreme stress in the days following a mass fatality incident, and their minds may be elsewhere during the collection process, causing them to inadvertently provide incorrect information. To avoid such mistakes, collection forms should be as simple as possible.
  • Every reference sample form should contain the following information about the victim:
    • Full name, including whether they are a Junior, Senior, etc.
    • Date of birth.
    • Social Security number (if known).

It is not uncommon for several victims in a large disaster to share the same name but be unrelated. Similarly, related individuals with the same names—cousins, for example—may be victims in a single event. Consistent use of the following guidelines will ensure that the proper reference samples are assigned to each victim:

  • Always collect the donor’s full name and date of birth. During times of grief, relatives may not realize that they are using nicknames or that a father’s “Bob” may be a mother’s “Robby.”
  • Europeans and Americans write dates differently (the standard European notation is DD/MM/YY). Ensure that month and day fields are unambiguous on collection forms.
  • Family members frequently transpose their relationship to the victim. In most cases, this is a result of a poorly worded question such as, “What is your relationship to the victim?” It is better to ask questions from the perspective of the donor. For example, “The victim is my ___________.” or “I am the victim’s ___________.” Also, the dates of birth of the donor and the victim can be used to help correct these mistakes.
  • Collect as much information as possible about the relevant family structure; Sample Family and/or Donor Reference Collection Form may be a helpful guide. The laboratory can compare purported pedigrees from members of the same family, then use dates of birth and genotypes to help discern the true relationships.
  • Collect as much information and as many samples as possible. There may not be another opportunity.

Joan Bailey-Wilson

A lesson we learned in the World Trade Center identification effort was that collection of the kin reference sample had to be appropriately placed in their genetic context at the time they were collected or there could be great difficulty later on in the analyses of identification probabilities. Therefore, geneticists and genetic counselors should assist with collected family relationship data from those contributing reference samples in the aftermath of a mass casualty disaster.

Generally, collection centers are staffed by members of the family assistance center, DMORT, and ME personnel. It is critical that the laboratory staff participate in the reference sample collection process, and it is advisable for the laboratory to define and control the process. Non-DNA laboratory personnel usually do not have the expertise to assess how kinship samples or personal items will contribute to the DNA identification effort. For example, a family member might ask, “I have a second cousin living overseas; should we contact her for a sample?” Individuals trained in DNA analysis and genetics must be available to respond to such questions and ensure that the most valuable samples (from a DNA identification perspective) are collected and analyzed.

Traditionally, the metadata associated with a reference sample are collected on paper, then transferred to computer. Ideally, however, all information is entered directly into a database during the collection process. This helps reduce transcription and other data entry errors, such as those resulting from illegible handwriting. It would helpful, for example, if a specialized collection workstation could be constructed to streamline the collection procedure and guarantee greater accuracy. Features of a specialized collection workstation— many which are included in the software that the Armed Forces DNA Identification Laboratory (AFDIL) uses to collect reference samples—might include:

  • Two monitors, one oriented toward the individual performing the data entry, the other oriented toward the family member (allowing the family member to validate information as it is entered).
  • A device that electronically captures the donor’s signature; these devices are already in use in some retail stores.
  • A printer for creating copies of forms to be given to the donor at the end of the interview.
  • A barcode printer; for example, buccal swabs and personal items could be immediately barcoded for the laboratory’s sample tracking system.
  • A digital camera to photograph personal items.

Two approaches may be used to collect reference samples from families: an “open house” (family members visit the collection center without an appointment during the day) and, the preferred approach, scheduled appointments when all family members are able to attend.

The primary advantage of the open house approach is that family members can come and go according to their own schedules. However, an open house has drawbacks, including:

  • The collection site must be staffed, even when there is low or no demand.
  • It can become chaotic if many people arrive at the same time (e.g., lunch hour, after work).
  • Because members of the same family may arrive at different times, it can be difficult to ensure that specific personal items and kinship samples are assigned to the proper victim. This can occur, for example, if one family is mistakenly assigned more than one case number. (Note: Each victim should be assigned a unique case number. See chapter 9, Information Technology.)
  • There is a greater probability that family members will provide conflicting pedigree information.

The preferred approach to collecting reference samples, however, is to schedule an appointment with an entire family unit. The primary advantage with this approach is that all the reference samples for a victim are collected at one time. Although each collection will take more time when an entire family is present, this approach decreases the chance of a sample mixup, allows the entire family to validate the pedigree, and uses laboratory staff time more efficiently.

Regardless of the collection approach, there invariably are some family members who—due to poor health or distance, for example—are unable to visit the collection center. In these cases, the collection center must make special arrangements to visit their homes, have other agencies (such as law enforcement agencies or phlebotomists) collect samples, or mail collection kits directly to family members. (Note: This last method circumvents appropriate chain-of-custody procedures and should not be used if strict forensic protocols are in force.)

As discussed in chapter 2, How DNA Is Used to Make Identifications, the number of possible identifications depends on the condition of the human remains and the reference samples. After the laboratory develops DNA profiles for all of the personal items and kinship swabs, it will assess whether the reference samples provide sufficient information to identify the victim. In some cases, the laboratory may need additional information from biological relatives or personal items.