OBJECTIVE: Many emergency departments that perform a high volume of group A Streptococcus throat cultures inform patients or parents that unless they are notified of a positive result they can assume that their throat culture result is negative. Thus, positive throat culture results are communicated actively and negative results are communicated passively. We sought to determine the effectiveness and safety of such a system. METHODS: Prospective cohort study of 301 consecutive patients who had group A Streptococcus throat cultures obtained between March 28, 2000, and May 10, 2000, in the emergency department of an urban, academic, tertiary-care children's hospital. Outcomes were determined by telephone surveys of patients or their parents or guardians. The primary outcome was whether respondents had accurate knowledge of the throat culture result. Secondary outcomes included receipt of appropriate treatment instructions, need for another telephone call to the emergency department or primary-care provider to clarify the result or treatment instructions, satisfaction with the communication process, and preference to receive both positive and negative results or just positive results. RESULTS: Fifty-three percent of respondents did not have accurate knowledge of the throat culture result, 5% received inappropriate treatment instructions, 13% sought further clarification, 29% were dissatisfied with the communication process, and 85% preferred to receive both positive and negative results. Parents of patients with positive results were more likely to have accurate knowledge of the result (odds ratio 6.9, 95% confidence interval 1.4-65.7) and to be satisfied with the communication process. CONCLUSIONS: Passive communication of negative throat culture results to patients seen in the emergency department can be unreliable. Active communication of both positive and negative results may improve patient knowledge and satisfaction and ensure appropriate therapy, but in the absence of automated notification systems, would be resource intensive.

OBJECTIVE: To define current practice among US newborn screening programs for notification of results, research, and consenting procedures. METHODS: A telephone survey of all US newborn screening program supervisors. RESULTS: All 51 programs participated. All states reported abnormal results to the infant's physician, and some also reported to the hospital and parents. Cases with abnormal results were tracked to different endpoints but usually (92.1%) at least until a follow-up appointment was made. A total of 66.6% of programs can communicate with programs in other states; 9.8% enable families to suppress reporting of results to the infant's physician. No state has a mechanism for parents to prevent results from entering the medical record. Parents or physicians who request results are often authenticated by providing their name (52.9%). Many programs (45.1%) report only to physicians and require just their name (43.5%), an identification number (17.4%), a letter (26.1%), or a parent's signature (26.1%). A total of 70.6% retain residual blood samples; of these, only 8.3% store them completely devoid of patient identifiers. A total of 49.0% of programs aggregate data for research. In 16.0% of these, the data are publicly available. In 24.0%, researchers obtain approval at their own institution; in 24.0%, researchers obtain approval through the state laboratory Institutional Review Board. In 74.5% of programs, parents are notified but not asked for consent before collection of the sample; 19.6% neither notify parents nor obtain consent before screening. CONCLUSIONS: There is wide variation in practice among the US newborn screening programs. Because the programs collectively manage a comprehensive nationwide genomic databank, careful consideration of how information technology and high-throughput genomic analysis are used will be essential to allow progress in clinical care, public health, and research while protecting individual privacy.

OBJECTIVE: DNA samples are often processed and sequenced in facilities external to the point of collection. These samples are routinely labeled with patient identifiers or pseudonyms, allowing for potential linkage to identity and private clinical information if intercepted during transmission. We present a cryptographic scheme to securely transmit externally generated sequence data which does not require any patient identifiers, public key infrastructure, or the transmission of passwords. MATERIALS AND METHODS: This novel encryption scheme cryptographically protects participant sequence data using a shared secret key that is derived from a unique subset of an individual's genetic sequence. This scheme requires access to a subset of an individual's genetic sequence to acquire full access to the transmitted sequence data, which helps to prevent sample mismatch. RESULTS: We validate that the proposed encryption scheme is robust to sequencing errors, population uniqueness, and sibling disambiguation, and provides sufficient cryptographic key space. DISCUSSION: Access to a set of an individual's genotypes and a mutually agreed cryptographic seed is needed to unlock the full sequence, which provides additional sample authentication and authorization security. We present modest fixed and marginal costs to implement this transmission architecture. CONCLUSIONS: It is possible for genomics researchers who sequence participant samples externally to protect the transmission of sequence data using unique features of an individual's genetic sequence.

The Massachusetts Health and Homeland Alert Network (HHAN) is a secure, open-source web-based knowledge management portal for sensitive public health information. The HHAN rapidly disseminates notifications to user groups via email, the web, and telephonic alerts, and tracks whether alerts have been received and confirmed by notified parties.

Personally controlled health records (PCHRs) and patient portals are increasingly being offered by healthcare institutions, employers, insurance companies and commercial entities to allow patients access to their health information. Both applications offer unique services to provide patients with tools to manage their health. While PCHRs allow users ubiquitous, portable, patient controlled access to their health information, traditional patient portals provide provider-tethered applications allowing patients access, but not control of, certain healthcare information, as well as communication and administrative functions, such as secure messaging, appointment management and prescription refill requests, facilitating care at a specific healthcare facility.We describe our approach for the design, content creation, policy development, and implementation of MyChildren's, a unique web-based application leveraging the advantages of both a provider-tethered patient portal and a PCHR to allow patients and their guardians access to the functionality and convenience of a traditional patient portal, as well as the portability and flexibility of a PCHR.

BACKGROUND: Genomic sequencing of SNPs is increasingly prevalent, though the amount of familial information these data contain has not been quantified. METHODS: We provide a framework for measuring the risk to siblings of a patient's SNP genotype disclosure, and demonstrate that sibling SNP genotypes can be inferred with substantial accuracy. RESULTS: Extending this inference technique, we determine that a very low number of matches at commonly varying SNPs is sufficient to confirm sib-ship, demonstrating that published sequence data can reliably be used to derive sibling identities. Using HapMap trio data, at SNPs where one child is homozygotic major, with a minor allele frequency

The development of integrated systems to provide patient-centric health records requires granting access to medical records that have been created at a set of disparate institutions. As many of these institutions no longer have an operational relationship with the patient, this poses a complex authentication problem. We propose a multi-factor authentication framework that allows a trusted intermediate authority to use the contents of potentially matching medical records to generate secondary authentication questions and to manage authorization of appropriate access. This helps to disambiguate between similar records from different patients, as well as ensure that the patient is who she purports to be.