Legal and Ethical Context of Next Generation Sequencing

Next generation sequencing (NGS) holds the promise of discovering much more about a person's genetic makeup. As the prospect of the $1000 genome becomes a reality, attention is focusing on the implementation of this technology into clinical practice. This throws up a range of ethical and legal challenges largely due to the sheer scale of NGS and its capacity to provide vast information, only some of which will currently be understandable. This paper explores the ethical and legal issues arising in respect of NGS, including implications for consenting patients and ensuring adequate understanding of what is involved, the question of results back to the patient and the foreseeable dilemma of 'incidental findings' and extent of the duty of disclosure to the patient now and into the future as more is understood about currently unknown mutations. The paper will also look at issues in relation to data storage and privacy protection and related concerns about genetic discrimination and even genetic determinism if this technology is brought into day-to-day use (e.g., newborn screening). The paper suggests that with good planning and careful attention to the consent process with negotiation as to what information will be returned, NGS is capable of manageable implementation into clinical practice.