Chapter 18

Future Trends

Fundamentals of Forensic
DNA Typing

Slides prepared by John M. Butler

June 2009
 Chapter 18 – Future Trends
Chapter Summary
As the power of forensic DNA typing has been
demonstrated over the past two decades, there has
been an accelerated growth to the field both in terms of
depth and breadth. National DNA databases in the UK
and US now number in the millions of samples and are
actively used to solve crimes without suspects. While the
standard set of STR markers in use will not likely change
in the immediate future, techniques and genetic markers
capable of extracting more information from a sample
will continue to be developed. Trends in human identity
testing will likely include the need for more characterized
and validated genetic markers to aid application to more
complex kinship analysis. Continued growth can be
expected for the foreseeable future in this dynamic and
important application of modern DNA science.
 Possible scenarios for extending sets of genetic
markers to be used in national DNA databases
John M. Butler (2009) Fundamentals of Forensic DNA Typing, Figure 18.1

Core set of markers

(e.g., CODIS 13 STRs)

Past and (a)

Present

(b)
Future
(c)

(d)
 Primary Steps in Adopting New Genetic Markers
John M. Butler (2009) Fundamentals of Forensic DNA Typing, Figure 18.2

Loci Described
Internal Validation
Kit Developed

Assay Constructed
Use in Casework
Kit Tested

Population Study

Court Presentation/
Acceptance
Released to Community
Information Gathered

Forensic
Research Development Application
Government Typically by Commercial Forensic Labs
Funded or Private Manufacturer
 Solution: Additional Markers
(Y-chromosome, more STRs) and
Core Competency Multiple Reference Samples
John M. Butler (2009) Fundamentals of Forensic DNA Typing, Figure 18.3

Challenging
Standard kinship search
questions Familial Searching
STR Typing Direct Matching
(or Parentage)
Attempts (fishing for
brothers or other
(DNA Profile) relatives)
Sufficient DNA quantity (ng)

Lower
amounts of
DNA being
tested

Touch DNA Attempts

(poor quality, mixtures, low-level
stochastic effects)
Solution: Replicate Testing
 Going Beyond the Core Competencies of
Forensic DNA Testing
John M. Butler (2009) Fundamentals of Forensic DNA Typing, Figure 18.3

Core Competency
Challenging
Standard kinship search
questions
Familial Searching
STR Typing Direct Matching
(or Parentage)
Attempts (fishing for
(DNA Profile) brothers or other
relatives)
Sufficient DNA quantity (ng)
Solution: Additional Markers
Lower (Y-chromosome, more STRs) and
amounts of Multiple Reference Samples
DNA being
tested

Touch DNA Attempts

(poor quality, mixtures, low-level
Be very cautious
stochastic effects) when outside the box…
Solution: Replicate Testing
 Problems of Sibling Searches
John M. Butler (2009) Fundamentals of Forensic DNA Typing, Figure 18.4

(a) (b)
Mother’s alleles

12 13 8,9 12,13
Father’s alleles

8 8,12 8,13
8,12 9,12
8,13 9,13
9 9,12 9,13
Q
(query)
K
(database)
http://medicalcenter.osu.edu/images/healthconnections/winter2003/dnaCrystalBallIllustration.jpg
A “Crystal Ball” to the Future?
http://perswww.kuleuven.ac.be/~u0013314/computer.gif

The Past

http://www.utexas.edu/its/blackberry/images/blackberry.gif
The Present

http://spockswomanjz.20fr.com/images/spock_2.jpg
Progress is Being Made…
The Future
 http://www.bioteach.ubc.ca/MolecularBiology/DNAfingerprint/

The Past

RFLP

500 – 25,000 bp
STRs
The Present

100 - 500 bp
http://www.studyworksonline.com/cda/image/preview/0,1127,937,00.jpg
The DNA Field Moves Forward…

SNPs
The Future

50 - 150 bp
miniSTRs
 Lab Automation

• Robotics
• LIMS
• Expert Systems
 Unique Challenges with Adopting New
Technologies by Forensic DNA Laboratories
• Validation

• Limited funding for capital equipment

• Need for court acceptance (Frye and Daubert)

Unique Challenges to Forensic DNA Testing

• High quality results needed (every time)

because of impact on individual’s liberty
• Regulated environment
– Proficiency testing of analysts
– Accreditation of labs
– Auditing to National Quality Assurance Standards
• Care to prevent contamination
• The ever present politics and bureaucracy that
exists in many government labs
 Additional Challenges
• Multiplex STR amplification require a fairly narrow
amount of input DNA to product high quality results

• High-throughput needs for databanking labs

– Automated software for data review

• An attitude of being (and needing to be) “error-free”

• Separating biological fluids – perpetrator’s sperm from

victim’s vaginal epithelial cells

• Mixture components can be difficult to decipher

 General Predictions for the Future

• Refer to The Future of Forensic DNA (NIJ 2000)

• STRs will play a major role for the foreseeable

future due to large sizes of existing and rapidly
growing DNA databases
 •Report published in Nov 2000

•Asked to estimate where DNA

testing would be 2, 5, and 10 years
into the future

Conclusions
STR typing is here to
stay for a few years
because of DNA
databases that have
grown to contain
millions of profiles
http://www.ojp.usdoj.gov/nij/pubs-sum/183697.htm
 Principles of Forensic DNA
for Officers of the Court

1. Introduction 8. Mitochondrial DNA & Y-STR

2. Biology of DNA Analysis
3. Practical Issues Specific to 9. Forensic DNA Databases
DNA Evidence 10. Collection of DNA Evidence
4. Forensic DNA Laboratory 11. Pretrial DNA Evidence
5. Assuring Quality in DNA Issues
Testing 12. Victim Issues
6. Understanding a Forensic 13. Trial Presentation
DNA Lab Report 14. Postconviction DNA Cases
7. Statistics and Population 15. Emerging Trends
Genetics

http://www.dna.gov/training/otc/
 Content of Section 15 “Emerging
Trends” from Officers of the Court
• Topic 1 :: Single Nucleotide Polymorphisms (SNPs)
• Topic 2 :: Automation
– Microarrays (Chip Technology)
– Portable DNA Typing Laboratory
– Low Copy Number DNA Analysis
• Topic 3 :: Microbial Forensics and DNA Testing
• Topic 4 :: Other Non-human Forensic DNA Analysis
• Topic 5 :: DNA Typing and Physical Appearance
– Biogeographical Ancestry
– Approximate Age Determination

http://www.dna.gov/training/otc/
http://www.manastungare.com/publications/genetic/dna.gif

The Future
• More Robotics

• Expert Systems

• Animal & Plant DNA

• Physical Characteristics

• Ethnicity Estimation
 Time Line Showing the Potential
for DNA Deposition/Transfer

Crime
Higher sensitivity techniques
are most likely to pick up
Event Potential to
previously deposited “Contaminate”
(background) DNA
Time

Analysis completed
Laboratory analysis
Opportunity for
Adventitious Transfer Investigators arrive, detect, and
recover evidentiary material
Discovery

Opportunity for DNA

Transfer from Perpetrator

Adapted from Gill, P. (2002) BioTechniques 32(2): 366-385, Figure 5

 Conclusions

• This is an exciting time to be involved in forensic

DNA testing

• However, it is a little scary because technology

is advancing so rapidly on some fronts

• Thus, training for both the scientific and legal

communities is vital to make the most effective
use of the wonderful power of DNA technology
 Improvements in Forensic DNA Analysis
• Biology
– Improved DNA extraction with automation
– New capabilities for recovery of information from
degraded DNA samples (e.g., miniSTRs)
• Technology
– Parallel processing of DNA with capillary arrays
– Expert systems for automated data interpretation
• Genetics
– Ethnicity estimations (with STRs and/or SNPs)
– Larger Y-STR and mtDNA population databases

Effective Training is Needed in All Areas

Training Materials Available or Planned
• DNA Basics
• Validation
• STR Analysis and Capillary Electrophoresis
• Y-Chromosome Analysis
• Mitochondrial DNA Analysis
• Expert Systems
• Low-Copy Number (LCN) DNA Testing
• Statistics
• Mixture Interpretation
http://www.cstl.nist.gov/biotech/strbase/training.htm
Training Materials and Review Articles
• Workshops on STRs and CE (ABI 310/3100)
– Taught with Bruce McCord (Florida Int. Univ.)
– NEAFS (Sept 29-30, 2004)
– U. Albany DNA Academy (June 13-14, 2005)
– AAFS Feb 2006 Workshop #6 (February 20, 2006)

• Other Workshops
– Validation (August 24-26, 2005)
– mtDNA Analysis (March 13-15, 2006)
– Expert Systems (March 27, 2006)

• PowerPoint Slides from Forensic DNA Typing, 2nd Edition

– >150 slides available now (~1,000 planned) for download
– http://www.cstl.nist.gov/biotech/strbase/FDT2e.htm

• Review Articles
– ABI 310 and 3100 chemistry – Electrophoresis 2004, 25, 1397-1412
– Core STR Loci – J. Forensic Sci. 2006, 51(2): 253-265

http://www.cstl.nist.gov/biotech/strbase/training.htm
 Chapter 18 – Points for Discussion

• What are some potential advantages to

microchip CE devices?

• Why are allelic ladders unnecessary with mass

spectrometry techniques for STR analysis?

• Why are forensic laboratories typically slow to

adopt new technologies?