Fundamentals of Forensic DNA Typing

1. Chapter 12 DNA Databases Fundamentals of Forensic DNA Typing Slides prepared by John M. Butler June 2009

2. Chapter 12 – DNA Databases Chapter Summary DNA databases in many cases enable successful conclusion to forensic cases without suspects and connection of serial crimes involving biological evidence. Two primary indices exist with forensic DNA databases that are searched against one another: (1) DNA profiles from offenders who have been convicted or in some cases just arrested for a crime, and (2) DNA profiles from crime scene evidence. The Combined DNA Index System (CODIS) is comprised of three levels: the Local DNA Index System (LDIS), the State DNA Index System (SDIS), and the National DNA Index System (NDIS). The U.S. CODIS system utilizes 13 core STR markers while many other national DNA databases use some of the same loci and some additional ones. Missing persons indices also exist and can be used to match unidentified human remains with personal effects or biological relatives of suspected missing persons. Missing persons analysis often involves use of lineage markers, such as Y-chromosome STRs and mitochondrial DNA, to enable expansion of possible biological relatives to serve as reference samples.

3. Describes the first use of DNA (in 1986) to solve a double rape-homicide case in England; about 5,000 men asked to give blood or saliva to compare to crime stains Connection of two crimes (1983 and 1986) Use of “DNA database” to screen for perpetrator (DNA only done on 10% with same blood type as perpetrator) Exoneration of an innocent suspect DNA was an investigative tool – did not solve the case by itself (confession of an accomplice) Lessons from the First Case Involving DNA Testing A local baker, Colin Pitchfork, was arrested and his DNA profile matched with the semen from both murders. In 1988 he was sentenced to life for the two murders.

4. No Suspect DNA Cases • Why look at no suspect cases to examine the value of forensic DNA? • These cases rely on victim testimony (memory) under duress, thus the most prone to wrongful conviction • These cases have suspect DNA present a substantial proportion of the time (seminal fluid) • These cases make use of available tools in the forensic DNA arsenal (crime scene DNA, Y STR, DNA databases) • No suspect cases are virtually unsolvable prior to the age of forensic DNA Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

5. Sexual Assault Victims • 366,460 sexual assaults are reported per year in the U.S. (1992-2000 average) • That is 1000 per day, 42 per hour, or one sexual assault reported every 86 seconds • Only 1/3 to 1/20 of sexual assaults are reported to police; therefore, this number is very conservative Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

6. Sexual Assaults by Strangers • 34% of sexual assaults are committed by a stranger (termed a “no suspect” sexual assault, therefore these cases are normally unsolved without DNA) • Both puzzle pieces of crime scene and database DNA working together • These are the cases where forensic DNA really shines Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

7. Recidivism (Repeat Offenders) • 2/3 of the offenders are repeat offenders • The same offenders are committing the same crimes on new victims Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

8. Number of Offenses per Offender • The average serial rapist commits 8 sexual assaults prior to apprehension • 7 offenses per serial sexual offender are now preventable with crime scene DNA done on every case and a current DNA database (8 offenses per serial sexual offender, minus the first offense to risk getting caught) Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

9. Foreign DNA Profiles • 47.58 % crime scene DNA success rate (% of cases where sperm is found and a male DNA profile is generated) Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

10. Solving Cases • What level of success can we expect when we put the puzzle pieces of crime scene DNA together with a DNA database? • 42% DNA database success rate (% of cases where a hit is made to a known offender) and 69% if case to case hits are included (Forensic Science Service – Britain) Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

11. Cost of Crime • $111,238 cost of crime per offense committed, adjusted from 1995 study to 2003 dollars • This figure includes the physical injury, hospitalization, lost time at work, counseling, and “pain and suffering” • No amount has been added for the cost of investigation, prosecution, the justice system, or incarceration Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

12. Let’s put all these pieces together Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

13. 366,460 U.S. annual reported sexual assaults • X • 34% of sexual assaults are committed by a stranger • = 124,596 reported “no suspect” sexual assaults Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

14. 124,596 reported “no suspect” sexual assaults • X • 2/3 of the offenders are repeat offenders • = 83,056 of no suspect sexual assaults are committed by repeat offenders Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

15. 83,056 of no suspect sexual assaults are committed by repeat offenders • X • 7 offenses per serial sexual offender are now preventable) • = 581,392 future sexual assaults that are preventable Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

16. 581,392 future sexual assaults that are preventable • X • 47.58 % crime scene DNA success rate • = 276,626 unnecessary victims of preventable sexual assaults Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

17. 276,626 unnecessary victims of preventable sexual assaults • X • 42% DNA database success rate • = 116,183 estimated sexual assaults solved Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

18. 116,183 estimated sexual assaults solved • X • $111,238 cost of crime Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

19. = $12,924,000,000.00 or over $12.9 Billion saved cost Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

20. Expense to Do Cases • 366,460 sexual assaults are reported per year in the U.S. (1992-2000 average) • X • $1000 per case • = $366 Million Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

21. Return on Investment (ROI) • $12,924,000,000.00 or over $12.9 Billion saved cost • $366 Million in annual expense to conduct testing on every reported sexual assault • Database cost is a “one time cost” in establishing, as we only need one sample per suspect per lifetime • Annual cost of database aside, the ROI is: Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

22. Over $35saved for every $1 expended That’s a 3500% Return on Investment! Source: Ray Wickenheiser (AAFS 2004 talk) The Business Case for Using Forensic DNA Technology to Solve and Prevent Crime

23. The Business Case for Using Forensic DNA • Working through these numbers gives the following cost to crime: • 366,460  34% = 124,596 reported ‘no suspect’ sexual assaults • 124,596  2/3 = 83,056 of ‘no suspect’ sexual assaults are committed by repeat offenders • 83,056  7 = 581,392 future sexual assaults that are preventable • 58,1392  47.58% = 276,626 unnecessary victims of preventable sexual assaults • 276,626  42% = 116,183 estimated sexual assaults could be solved with DNA database hits • 116,183  $111,238 = $12.9 billion saved in terms of costs from prevented crimes • The cost to perform sexual assault testing in every case is approximately $366 million assuming a cost of $1000 per case and working all 366,460 sexual assaults. Thus, the return on investment is over 3500%. For every dollar invested in forensic DNA testing, this analysis shows over $35 would be saved in terms of expense to victims and society. John M. Butler (2009) Fundamentals of Forensic DNA Typing, D.N.A. Box 12.1 Published in Wickenheiser, R.A. (2004) The business case for using forensic DNA technology to solve and prevent crime. J. Biolaw Business 7(3): 34–50

24. Steps in DNA Analysis Steps in DNA Analysis Collection Extraction Quantitation • Combined DNA Index System (CODIS) • Used for linking serial crimes and unsolved cases with repeat offenders • Convicted offender and forensic case samples • Launched October 1998 • Requires 13 core STR markers • Annual Results with NIST SRM required for submission of data to CODIS Genotyping Interpretation of Results Database Storage & Searching No names are associated with DNA profiles uploaded to NDIS An example profile entered for searching: 16,17-17,18-21,22-12,14-28,30-14,16-12,13-11,14-9,9-9,11-6,6-8,8-10,10

25. Database vs. Databank • A database is a collection of computer files containing entries of DNA profiles that can be searched to look for potential matches. • A databank is a collection of the actual samples – usually in the form of a blood sample or buccal swab or their DNA extracts.

26. Sample Retention • Most jurisdictions permit the retention of the biological specimen even after the STR typing results have been obtained and the DNA profile entered into the database. • This sample retention is for quality control purposes (including hit confirmation) and enables testing of additional STRs or other genetic loci should a new technology be developed in the future.

27. Aspects of a National DNA Database A number of components must be in place before the database can be established and actually be effective. These include: • A commitment on the part of each state (and local) government to provide samples for the DNA database – both offender and crime scene samples; • A common set of DNA markers or standard core set so that results can be compared between all samples entered into the database; • Standard software and computer formats so that data can be transferred between laboratories and a secure computer network to connect the various sites involved in the database (if more than one laboratory is submitting data); • Quality standards so that everyone can rely on results from each laboratory.

28. Three Parts to Forensic DNA Databases • collecting specimens from known criminals or other qualifying individuals as defined by law • analyzing those specimens and placing their DNA profiles in a computer database, and (3) comparing unknown or ‘Q’ profiles obtained from crime scene evidence with the known or ‘K’ profiles in the computer database

29. NDIS (FBI Laboratory) SDIS (Richmond, Virginia) SDIS (Tallahassee, Florida) LDIS (Tampa) LDIS (Roanoke) LDIS (Norfolk) LDIS (Orlando) LDIS (Fairfax) LDIS (Broward County) Three Tiers of the Combined DNA Index System (CODIS) National Level State Level John M. Butler (2009) Fundamentals of Forensic DNA Typing, Figure 12.1 Local Level NDIS = National DNA Index System SDIS = State DNA Index System LDIS = Local DNA Index System

30. ‘Forensic Hit’ 2 Convicted Offender Index Forensic Index Arrestee Index Offenders (N) Crime Samples (C) Arrestees (A) 3 1 ‘Offender Hit’ Primary Searches Conducted John M. Butler (2009) Fundamentals of Forensic DNA Typing, Figure 12.2

31. Exploration 1985-1995 Beginnings, different methods tried (RFLP and early PCR) Stabilization 1995-2005 Standardization to STRs, selection of core loci, implementation of Quality Assurance Standards Growth 2005-2009 Rapid growth of DNA databases, extended applications pursued Sophistication The Future Expanding tools available, confronting privacy concerns Stages of Forensic DNA Progression Stages Time Frame Description

32. Growth of DNA Databases • Have benefited from significant federal funding over the past five years • Expanded laws now enable more offenders to be included • Have effectively locked technology with core STR markers used to generate DNA profiles that now number in the millions

33. Growth in Numbers of U.S. StatesRequiring DNA Collection for Various Offenses John M. Butler (2009) Fundamentals of Forensic DNA Typing, Table 12.5 Sources: http://www.dnaresource.com and http://www.ncsl.org/programs/cj/dnadatabanks.htm Starting initially with sex crimes, each category has grown in the past decade… burglary, all felons, arrestees…

34. Growth in DNA Profiles Present in the U.S. National DNA Database various NDIS indices (cumulative totals by year) John M. Butler (2009) Fundamentals of Forensic DNA Typing, Table 12.1 Source: CODIS brochure available at http://www.fbi.gov/hq/lab/pdf/codisbrochure2.pdf and FBI Laboratory’s CODIS Unit.

35. Hit Counting Statistics (cumulative totals by year) John M. Butler (2009) Fundamentals of Forensic DNA Typing, Table 12.3 Source: CODIS brochure available at http://www.fbi.gov/hq/lab/pdf/codisbrochure2.pdf and FBI Laboratory’s CODIS Unit.

36. Numbers of Investigations Aidedwith U.S. National DNA Database (NDIS) Growth due to funding from the President’s DNA Initiative Source: FBI Laboratory’s CODIS Unit

37. Numbers of Offendersin U.S. National DNA Database Growth due to funding from the President’s DNA Initiative Source: FBI Laboratory’s CODIS Unit

38. Numbers of Offenders & Arresteesin U.S. National DNA Database Growth due to funding from the President’s DNA Initiative Source: FBI Laboratory’s CODIS Unit

39. Numbers of Forensic Samplesin U.S. National DNA Database Growth due to funding from the President’s DNA Initiative Source: FBI Laboratory’s CODIS Unit

40. Position of Forensic STR Markers on Human Chromosomes AMEL Sex-typing AMEL 13 CODIS Core STR Loci TPOX 1997 D3S1358 TH01 D8S1179 D5S818 VWA FGA D7S820 Core STR Loci for the United States CSF1PO D13S317 D16S539 D18S51 D21S11

41. Additional STR Loci in the Future? • Will be needed for more complex kinship analyses and extended applications • Example: Y-STRs needed for familial searching • Immigration testing often needs more than 13 STRs (25 STRs have been recommended)

42. Possible scenarios for extending sets of genetic markers to be used in national DNA databases Core set of markers (e.g., CODIS 13 STRs) (a) Past and Present John M. Butler (2009) Fundamentals of Forensic DNA Typing, Figure 18.1 (b) Future (c) (d)

43. National DNA Index System (NDIS) No names are associated with DNA profiles uploaded to NDIS An example profile entered for searching: 16,17-17,18-21,22-12,14-28,30-14,16-12,13-11,14-9,9-9,11-6,6-8,8-10,10 Combined DNA Index System (CODIS) Launched in October 1998 and now links all 50 states Used for linking serial crimes and unsolved cases with repeat offenders Convicted offender and forensic case samples along with a missing persons index Requires 13 core STR markers >85,000 investigations aided nationwide as of early 2009 Contains more than 7 million DNA profiles http://www.fbi.gov/hq/lab/codis/index1.htm

44. CODIS DNA Database “Cold Hit” Mary Frances McDonald, 76, and Madeline "Mattie" Thompson, 73 were violently murdered in McDonald’s flower shop in Suitland (Sept. 2003) during a robbery/homicide for $60. No Suspects/Witnesses (DNA evidence from a discarded shirt was taken). Adam I. Neal, 24 is arrested in Alexandria, VA in the Spring of 2005 for stealing two cars and burglarizing a home… pled guilty in Nov. 2005. Feb. 14, 2006 - Prince George's police receive word that there was a hit and that the person with the matching DNA was already in jail.

45. Virginia DNA Database Hits as of 4/30/2007 356 2716 253 671 113 155 2516 378 606 655 161 Types of Crimes Solved Previous Criminal Conviction of Offender Identified Source: http://www.dnaresource.com/presentations.html

46. Casework Submissions Annual Growth Offender Sample Submissions Annual Growth Difference Pre-Expansion Post-Expansion 1,650 CASES 12,000 OFFENDERS 6,008 CASES 69,800 OFFENDERS 4,358 CASES 57,800 OFFENDERS Oregon DNA Program Growth Source: http://www.dnaresource.com/presentations.html

47. Issues and Concerns with DNA Databases • Privacy concerns • Sample collection from convicted offenders • Sample retention

48. Privacy Protections • Victim samples not permitted on the national index • Offender profiles uploaded with state record locater, ONLY • Offender database access limited to state CODIS Administrator • FBI encryption and security protections • States maintain control of all samples and identifying data • Federal laws and state laws harshly penalize and criminalize improper use of DNA samples Source: http://www.dnaresource.com/presentations.html

49. History of Federal U.S. Laws on DNA Databases John M. Butler (2009) Fundamentals of Forensic DNA Typing, Table 12.4

50. Three Approaches That Have Been Taken When Initial DNA Database Search Failed • John Doe Warrant • To “stop the clock” on statute of limitations and enable prosecution when a DNA match is found at a later date • Familial Searching • Has been used in the UK with some success • A lower stringency search is conducted enabling close relatives to potentially hit to evidence profile • DNA Dragnets • Collecting DNA samples from all individuals in a local area through “mass screens”