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Legislative framework and value of the forensic DNA examination of health-related information for crime investigation
Forensic Science International: Genetics Supplement Series 4 (2013) e360–e361
Contents lists available at ScienceDirect
Forensic Science International: Genetics Supplement Series journal homepage: www.elsevier.com/locate/FSIGSS
Legislative framework and value of the forensic DNA examination of health-related information for crime investigation I.O. Perepechina * Lomonosov Moscow State University, Moscow, Russian Federation
A R T I C L E I N F O
A B S T R A C T
Article history: Received 25 August 2013 Received in revised form 4 October 2013 Accepted 7 October 2013
Needs of the crime investigation cause all the more increasing expansion of the range of forensic DNA research, including such vulnerable areas as familial searching, mass DNA testing, forensic DNA phenotyping. Against this background, in the conditions of the rapid worldwide development of the medical molecular genetics, there is every reason to expect a revision of the position in regard to the admissibility of the forensic research DNA information about health. Foreseeing the emergence of such a situation makes the development of timely strict legal regulation of this kind of research necessary. This also makes appropriate the consideration of the potential of forensic research of the DNA regions associated with genetic diseases. The article deals with analysis of both national and international legislations in relation to the admissibility of forensic research health-related information. It also studies the potential and prospects of such a research, given its complexity, for forensics. The consideration shows that in spite of a great number of problems, research of health-related DNA regions is of forensic value and it is able to add new dimensions for police in investigating crimes. If allowed, heritable signs can serve as important search information in cases where there is no suspect, or in identification of victims of crimes or accidents. ß 2013 Elsevier Ireland Ltd. All rights reserved.
Keywords: Forensic DNA phenotyping (FDP) Hereditary disease Health-related DNA region Legal framework Crime investigation
1. Introduction In the case of unsolved brutal crimes any search information about the perpetrator is priceless. In the past years FDP has been successively developed, currently mainly focusing on the study of the signs of pigmentation as well as the geographical origin. Meanwhile, important data can also be derived from the healthrelated DNA regions. An avalanche-like release of new information about molecular nature of diseases due to the realization of the Human Genome Project has made a breakthrough in medical genetics. Great achievements in this area could potentially be also a solid basis for forensic research. However, in forensics the attitude to this field is extremely cautious. Really, the study of medical traits is vulnerable as fraught with potential risk for civil rights. But if in medical genetics the problem is solved by the strict ethical and legal regulation [1], which does not prevent the worldwide development of this area, in forensics the tendency is refusal to study health-related regions and even coding DNA at all. The situation seems paradoxical and requires to be discussed. There is only few works which analyze the implications of the forensic examination of medical traits [2]. The
* Tel.: +7 916 6900066; fax: +7 495 9392903. E-mail address: [email protected] 1875-1768/$ – see front matter ß 2013 Elsevier Ireland Ltd. All rights reserved. http://dx.doi.org/10.1016/j.fsigss.2013.10.183
aim of the article is an analysis: (1) of the legal aspects related to the topic and (2) of the anticipated forensic value of the study of health-related DNA regions. 2. Results 2.1. Analysis of the legal aspects of the forensic DNA examination of medical traits According to the Resolution of the Council of Europe on the exchange of the results of DNA analysis results [3], Member States ‘‘are urged to limit the DNA analysis results to chromosome zones containing no genetic expression, i.e. not known to provide information about specific hereditary characteristics’’. Limitations of the scope of forensic DNA examinations, which prevent study of health-related regions, were introduced in a number of national legislations (in Belgium, Germany, several USA states, etc.); in the Netherlands it is allowed to derive phenotypical information within strict framework only [2]. Yet, the legal regulation often deals with only the traditional DNA (STR) typing with no mention and thus no ban of any other forensic research. This means that the study of the coding DNA (any region), if necessary, can be carried out within the existing legal framework. Even if restrictions are still there, but they relate only to the activities within DNA database (as it is, for instance, in Russian legislation [4]), there is
I.O. Perepechina / Forensic Science International: Genetics Supplement Series 4 (2013) e360–e361
nothing to stop the study of any regions outside it. The ambiguity creates legal uncertainty with respect to such a sensitive issue. 2.2. Analysis of the anticipated value of the research of medical traits for the crime investigation There can be the following scenarios. (1) Revealing DNA markers of the disorders and prediction of its signs can be used while the creation of the phenotypical portrait of the perpetrator. (2) In the same way the information may be used for the search of the unknown person whose remains were found. (3) The person of interest can be searched within specific contingents through medical records. (4) Signs of the diseases can be used for the search also beyond DNA analysis, through reports of witnesses (victims). Of the forensic value can be mainly monogenic diseases (with complete or high penetrance; in case of a recessive disorder the mutant allele should be in a homozygous state) due to their rather high mutation detection rate – up to 90–100% for some diseases [5] as well as the possibility of the direct DNA diagnostics. They are often characterized by specific phenotype [6]. So, patients with Marfan syndrome are usually tall, with long slender limbs and fingers, chest deformation, narrow, ‘‘bird’’ face. A lot of diseases have expressed particular facial features, such as (briefly): telekant, heterochromia, a strand of white forehead (Waardenburg syndrome); dimples on the lower lip (Van-der-Vaude syndrome); wide-set eyes, a small short nose, proptosis (Marshall syndrome); unusual face, protruding ears, microcephaly (Williams syndrome, or syndrome of ‘‘Elf face’’); coarse facial features (mannosidose). Relevant to the search may be skin manifestations (vitiligo, neurofibromatosis, tuberous sclerosis), low growth (also in combination with the wrong build), a hoarse voice, hearing loss, mental retardation. Of no forensic value (at least, for the search of criminals) are severe syndromes resulting in early hard disability or death. Of the special consideration are diseases that manifest at a late age and, so, may be relevant to the crimes committed in past when the person was clinically healthy. In case of complete penetrance (Huntington’s chorea) the manifestation in future is inevitable and this can be a vector of the search. Significantly more common than monogenic disorders are polygenic, multifactorial ones. However, their rather low mutation detection rate – 10–90% [5] even in medical diagnostics, based on the total available information (including anamnesis, etc.), makes the prospects of their forensic use very problematic. With respect to forensics some chromosomal disorders may be considered.
e361
The analysis of the legislations suggests that examination of health-related DNA regions conducted strictly with search aims, beyond DNA database may often be carried out within the existing legal framework. Nevertheless, given the vulnerability of the medical traits research, even if their forensic examination is formally allowed, it should be legally regulated in order to exclude any uncertainty: (a) if such studies are unacceptable, they should just be prohibited; (b) if they are acceptable, they should be allowed; (c) if they are acceptable with reservations, the boundaries should be defined. Taking a decision, it must be assumed that the concept of human rights should not be onesided: along with the desire to defend civil rights of the perpetrators, who left traces in places of brutal murders, the rights of the victims, their relatives and the society at large should also be considered. 4. Conclusion Forensics as applied science is developed and enriched by the knowledge gained in other fields. Today one of the most promising sciences is molecular medical genetics with its unprecedented rapid progress. The consideration of the prospects of health-related DNA regions examination shows that in spite of a great number of problems their research is of high forensic value and is able to add new dimensions in investigating crimes. Legal issues should be settled in such a way as to achieve reasonable balance between interests of law enforcement and civil rights. Although the decision whether to use health-related DNA information in forensic research would be made on the national level, it deems vital that forensic experts and legal community should work out the common approach to this issue. Role of funding None. Conflict of interest None. Acknowledgement L.B. Burova acknowledged for providing language help. References
3. Discussion The issue under consideration reflects a common problem concerning novel forensic technologies: new opportunities may be inadequate for the existing legal regulations. This poses the need to choose: either to abandon the new effective technology or to review legislation. What we witness in regard to current forensic DNA analysis is the trend of steady expansion of its range into a number of vulnerable areas, such as familial searching, DNA mass screening, FDP.
[1] International Declaration on Human Genetic Data, 16 October 2003. http:// www.bioethics.org.gr/en/10_frame_1.html. [2] B.J. Koops, M. Schellekens, Forensic DNA phenotyping: regulatory issues, The Columbia Science and Technology Law Review 9 (2008), http://works.bepress.com/bert_jaap_koops/1. [3] Council Resolution of 30 November 2009 on the exchange of DNA analysis results (2009/C 296/01). Official Journal of the European Union. 5 December 2009. [4] Federal Law of 3 December 2008 No. 242, ‘‘On the state genome registration in Russian Federation’’. Rossiyskaya Gazeta, 9 December 2008. [5] G.J.B. van Ommen, E. Bakker, J.T. den Dunnen, The human genome project and the future of diagnostics, treatment, and prevention, Lancet 354 (1999) 5–10. [6] K.L. Jones, Smith’s Recognizable Patterns of Human Malformation, 6th ed., Elsevier, Moscow, 2011, ISBN: 0-7216-0615-6.
Contents lists available at ScienceDirect
Forensic Science International: Genetics Supplement Series journal homepage: www.elsevier.com/locate/FSIGSS
Legislative framework and value of the forensic DNA examination of health-related information for crime investigation I.O. Perepechina * Lomonosov Moscow State University, Moscow, Russian Federation
A R T I C L E I N F O
A B S T R A C T
Article history: Received 25 August 2013 Received in revised form 4 October 2013 Accepted 7 October 2013
Needs of the crime investigation cause all the more increasing expansion of the range of forensic DNA research, including such vulnerable areas as familial searching, mass DNA testing, forensic DNA phenotyping. Against this background, in the conditions of the rapid worldwide development of the medical molecular genetics, there is every reason to expect a revision of the position in regard to the admissibility of the forensic research DNA information about health. Foreseeing the emergence of such a situation makes the development of timely strict legal regulation of this kind of research necessary. This also makes appropriate the consideration of the potential of forensic research of the DNA regions associated with genetic diseases. The article deals with analysis of both national and international legislations in relation to the admissibility of forensic research health-related information. It also studies the potential and prospects of such a research, given its complexity, for forensics. The consideration shows that in spite of a great number of problems, research of health-related DNA regions is of forensic value and it is able to add new dimensions for police in investigating crimes. If allowed, heritable signs can serve as important search information in cases where there is no suspect, or in identification of victims of crimes or accidents. ß 2013 Elsevier Ireland Ltd. All rights reserved.
Keywords: Forensic DNA phenotyping (FDP) Hereditary disease Health-related DNA region Legal framework Crime investigation
1. Introduction In the case of unsolved brutal crimes any search information about the perpetrator is priceless. In the past years FDP has been successively developed, currently mainly focusing on the study of the signs of pigmentation as well as the geographical origin. Meanwhile, important data can also be derived from the healthrelated DNA regions. An avalanche-like release of new information about molecular nature of diseases due to the realization of the Human Genome Project has made a breakthrough in medical genetics. Great achievements in this area could potentially be also a solid basis for forensic research. However, in forensics the attitude to this field is extremely cautious. Really, the study of medical traits is vulnerable as fraught with potential risk for civil rights. But if in medical genetics the problem is solved by the strict ethical and legal regulation [1], which does not prevent the worldwide development of this area, in forensics the tendency is refusal to study health-related regions and even coding DNA at all. The situation seems paradoxical and requires to be discussed. There is only few works which analyze the implications of the forensic examination of medical traits [2]. The
* Tel.: +7 916 6900066; fax: +7 495 9392903. E-mail address: [email protected] 1875-1768/$ – see front matter ß 2013 Elsevier Ireland Ltd. All rights reserved. http://dx.doi.org/10.1016/j.fsigss.2013.10.183
aim of the article is an analysis: (1) of the legal aspects related to the topic and (2) of the anticipated forensic value of the study of health-related DNA regions. 2. Results 2.1. Analysis of the legal aspects of the forensic DNA examination of medical traits According to the Resolution of the Council of Europe on the exchange of the results of DNA analysis results [3], Member States ‘‘are urged to limit the DNA analysis results to chromosome zones containing no genetic expression, i.e. not known to provide information about specific hereditary characteristics’’. Limitations of the scope of forensic DNA examinations, which prevent study of health-related regions, were introduced in a number of national legislations (in Belgium, Germany, several USA states, etc.); in the Netherlands it is allowed to derive phenotypical information within strict framework only [2]. Yet, the legal regulation often deals with only the traditional DNA (STR) typing with no mention and thus no ban of any other forensic research. This means that the study of the coding DNA (any region), if necessary, can be carried out within the existing legal framework. Even if restrictions are still there, but they relate only to the activities within DNA database (as it is, for instance, in Russian legislation [4]), there is
I.O. Perepechina / Forensic Science International: Genetics Supplement Series 4 (2013) e360–e361
nothing to stop the study of any regions outside it. The ambiguity creates legal uncertainty with respect to such a sensitive issue. 2.2. Analysis of the anticipated value of the research of medical traits for the crime investigation There can be the following scenarios. (1) Revealing DNA markers of the disorders and prediction of its signs can be used while the creation of the phenotypical portrait of the perpetrator. (2) In the same way the information may be used for the search of the unknown person whose remains were found. (3) The person of interest can be searched within specific contingents through medical records. (4) Signs of the diseases can be used for the search also beyond DNA analysis, through reports of witnesses (victims). Of the forensic value can be mainly monogenic diseases (with complete or high penetrance; in case of a recessive disorder the mutant allele should be in a homozygous state) due to their rather high mutation detection rate – up to 90–100% for some diseases [5] as well as the possibility of the direct DNA diagnostics. They are often characterized by specific phenotype [6]. So, patients with Marfan syndrome are usually tall, with long slender limbs and fingers, chest deformation, narrow, ‘‘bird’’ face. A lot of diseases have expressed particular facial features, such as (briefly): telekant, heterochromia, a strand of white forehead (Waardenburg syndrome); dimples on the lower lip (Van-der-Vaude syndrome); wide-set eyes, a small short nose, proptosis (Marshall syndrome); unusual face, protruding ears, microcephaly (Williams syndrome, or syndrome of ‘‘Elf face’’); coarse facial features (mannosidose). Relevant to the search may be skin manifestations (vitiligo, neurofibromatosis, tuberous sclerosis), low growth (also in combination with the wrong build), a hoarse voice, hearing loss, mental retardation. Of no forensic value (at least, for the search of criminals) are severe syndromes resulting in early hard disability or death. Of the special consideration are diseases that manifest at a late age and, so, may be relevant to the crimes committed in past when the person was clinically healthy. In case of complete penetrance (Huntington’s chorea) the manifestation in future is inevitable and this can be a vector of the search. Significantly more common than monogenic disorders are polygenic, multifactorial ones. However, their rather low mutation detection rate – 10–90% [5] even in medical diagnostics, based on the total available information (including anamnesis, etc.), makes the prospects of their forensic use very problematic. With respect to forensics some chromosomal disorders may be considered.
e361
The analysis of the legislations suggests that examination of health-related DNA regions conducted strictly with search aims, beyond DNA database may often be carried out within the existing legal framework. Nevertheless, given the vulnerability of the medical traits research, even if their forensic examination is formally allowed, it should be legally regulated in order to exclude any uncertainty: (a) if such studies are unacceptable, they should just be prohibited; (b) if they are acceptable, they should be allowed; (c) if they are acceptable with reservations, the boundaries should be defined. Taking a decision, it must be assumed that the concept of human rights should not be onesided: along with the desire to defend civil rights of the perpetrators, who left traces in places of brutal murders, the rights of the victims, their relatives and the society at large should also be considered. 4. Conclusion Forensics as applied science is developed and enriched by the knowledge gained in other fields. Today one of the most promising sciences is molecular medical genetics with its unprecedented rapid progress. The consideration of the prospects of health-related DNA regions examination shows that in spite of a great number of problems their research is of high forensic value and is able to add new dimensions in investigating crimes. Legal issues should be settled in such a way as to achieve reasonable balance between interests of law enforcement and civil rights. Although the decision whether to use health-related DNA information in forensic research would be made on the national level, it deems vital that forensic experts and legal community should work out the common approach to this issue. Role of funding None. Conflict of interest None. Acknowledgement L.B. Burova acknowledged for providing language help. References
3. Discussion The issue under consideration reflects a common problem concerning novel forensic technologies: new opportunities may be inadequate for the existing legal regulations. This poses the need to choose: either to abandon the new effective technology or to review legislation. What we witness in regard to current forensic DNA analysis is the trend of steady expansion of its range into a number of vulnerable areas, such as familial searching, DNA mass screening, FDP.
[1] International Declaration on Human Genetic Data, 16 October 2003. http:// www.bioethics.org.gr/en/10_frame_1.html. [2] B.J. Koops, M. Schellekens, Forensic DNA phenotyping: regulatory issues, The Columbia Science and Technology Law Review 9 (2008), http://works.bepress.com/bert_jaap_koops/1. [3] Council Resolution of 30 November 2009 on the exchange of DNA analysis results (2009/C 296/01). Official Journal of the European Union. 5 December 2009. [4] Federal Law of 3 December 2008 No. 242, ‘‘On the state genome registration in Russian Federation’’. Rossiyskaya Gazeta, 9 December 2008. [5] G.J.B. van Ommen, E. Bakker, J.T. den Dunnen, The human genome project and the future of diagnostics, treatment, and prevention, Lancet 354 (1999) 5–10. [6] K.L. Jones, Smith’s Recognizable Patterns of Human Malformation, 6th ed., Elsevier, Moscow, 2011, ISBN: 0-7216-0615-6.