Every day, physi­cians send tis­sue to pathol­ogy labs for rou­tine analy­ses; in addi­tion, tis­sue repos­i­to­ries are designed exclu­sively for the col­lec­tion and even­tual analy­sis of genetic mate­r­ial. In fact, in 2000, more than 300 mil­lion spec­i­mens con­tain­ing genetic mate­r­ial were stored in the United States. The vast col­lec­tion of sam­ples could eas­ily be used to explore genetic expres­sions asso­ci­ated with dis­eases. How­ever, con­cerns about eth­i­cal use of biospec­i­mens may pre­vent the use of many of those samples.

Informed con­sent is based on eth­i­cal con­cepts that demon­strate respect for the indi­vid­ual and autonomous deci­sion mak­ing. As such, biospec­i­mens should be used for genetic research only after an indi­vid­ual gives con­sent. How­ever, the best method to obtain this con­sent has proven to be problematic.

Because many of the sam­ples that are avail­able were obtained as part of rou­tine med­ical care and not for research pur­poses, patients did not con­sent to use of their spec­i­mens for research. Even when patients do con­sent to use of their spec­i­mens for a spe­cific type of genetic research, researchers may want to per­form addi­tional tests later, which requires addi­tional con­sent. The rapid expan­sion of knowl­edge regard­ing genetic muta­tions and the devel­op­ment of newer test­ing meth­ods also make it impos­si­ble for researchers to be able to antic­i­pate all of the ways that biospec­i­mens can be used.

Cur­rently, three informed con­sent prac­tices exist for use of biospecimens.

• Blan­ket con­sent allows for unre­stricted research. Some argue that blan­ket con­sent is accept­able as long as con­fi­den­tial­ity of genet­i­cally sen­si­tive results is maintained.
• Tiered con­sent gives per­mis­sion to test a spec­i­men for a pri­mary dis­ease but also grants use for research into other spec­i­fied dis­eases. Tiered con­sent gives researchers access to sam­ples for analy­sis in more than one dis­ease while allow­ing par­tic­i­pants to know how their tis­sue will be used.
• Tai­lored con­sent is the most restric­tive and requires researchers to con­tact indi­vid­u­als for addi­tional research using their sam­ples as the need arises. This type of con­sent gives indi­vid­u­als the most con­trol over their spec­i­mens but is also more labor inten­sive for researchers.

Informed con­sent for use in genetic research is imper­fect and lim­its the use of avail­able spec­i­mens. This leads to a ques­tion: can we eth­i­cally use spec­i­mens obtained from indi­vid­u­als with­out their con­sent to improve health out­comes for the greater good of the larger population?

Some argue that the poten­tial advances in dis­ease pre­ven­tion and treat­ment are more impor­tant than indi­vid­ual rights. Because the risk asso­ci­ated with genetic research is almost exclu­sively related to dis­clo­sure of pro­tected health infor­ma­tion, safe­guards to pre­vent con­fi­den­tial­ity breaches should suf­fice to meet eth­i­cal oblig­a­tions. How­ever, this util­i­tar­ian approach to genetic research, one which seeks the great­est amount of good, is in con­flict with cur­rent U.S. eth­i­cal stan­dards orig­i­nally devel­oped almost 70 years ago.

As a result of the hor­ri­fy­ing acts of med­ical research per­formed in Nazi Ger­many, the Nurem­burg Code was devel­oped. This code, adopted by the United States as the gold stan­dard for eth­i­cal con­duct of research, empha­sized vol­un­tary and informed con­sent. While informed con­sent may present its own prob­lems, self-​​determination is a fun­da­men­tal right of indi­vid­u­als par­tic­i­pat­ing in research.

• Maschke, K.J. (2008). Biobanks: DNA and research (pp. 11–14). In M. Crow­ley (Ed.), From Birth to Death and Bench to Clinic: The Hast­ings Cen­ter Bioethics Brief­ing Book for Jour­nal­ists, Pol­i­cy­mak­ers, and Cam­paigns. Gar­ri­son, NY: The Hast­ings Cen­ter. Retrieved from http://​www​.the​hast​ings​cen​ter​.org/​P​u​b​l​i​c​a​t​i​o​n​s​/​B​r​i​e​f​i​n​g​B​o​o​k​/​D​e​t​a​i​l​.​a​s​px?id=2154