Genome of HeLa cell line now released to scientists

Bethesda, MD – The first study to sequence and analyze the entire genome of a HeLa cell line, along with access to its sequence data, was published August 7 in its final version, by G3: Genes|Genomes|Genetics, an open-access, scientific journal of the Genetics Society of America.

The article, by Landry et al., was authored by scientists at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, and was published in an early online version March 11, 2013.

Genomic data from the HeLa cell line are also being released with the final version of the paper as a result of discussions between leaders of the National Institutes of Health (NIH) and relatives of Henrietta Lacks, from whose cervical tumour the original HeLa cell line was derived prior to her death in 1951. The genomic data will now be available to scientists via the NCBI’s Database of Genotypes and Phenotypes (dbGaP).

In direct response to the concerns of the Lacks family that the privacy of their genetic information might be affected by the availability of the HeLa genome sequence data published in G3, the EMBL scientists voluntarily removed the HeLa cell line sequence data from public access, and offered to work with the family towards a mutually acceptable solution. NIH Director Francis S. Collins, M.D., Ph.D., and NIH Deputy Director for Science, Outreach, and Policy Kathy L. Hudson, Ph.D., met several times with representatives of the Lacks family, and came to a mutual understanding to allow biomedical researchers controlled access to the data. Dr. Collins and Dr. Hudson describe their discussions with the Lacks family in a Comment published in this week’s edition of the journal Nature.

Since their isolation in 1951, HeLa cells have been the most widely used human cell line in research. They have become a valuable resource for biologists, enabling momentous scientific breakthroughs including the development of the polio vaccine the Nobel Prize winning studies defining the role of telomerase in aging, and research on the causative role of human papillomavirus (HPV) in some types of cervical cancer. The latter discovery spurred the development of an HPV vaccine to prevent certain types of cervical cancer from occurring. In fact, Ms. Lacks’ death was caused by cervical cancer.

The advent of genomics and rapid sequencing techniques has seen HeLa cells used in numerous large-scale studies of gene function and expression. Yet, “these studies using HeLa cells had to rely on information from the ‘reference’ sequence produced by the Human Genome Project, even though there was evidence that the genomes of HeLa cell lines were probably quite different,” said Lars Steinmetz, Ph.D., who led the G3 study.

Dr. Steinmetz and his team found the genome of the HeLa cell line that they sequenced differs dramatically from a normal human genome sequence. These differences include widespread sequence variation, extra copies of genes, and massive, complex rearrangements.

Because the dataset now will be available to the scientific community, researchers will be able to account for these differences when designing and interpreting experiments using this HeLa cell line. The genomic particularities of HeLa cells relate to their origin from an aggressive cancer and subsequent cultivation in laboratories for decades, both of which cause considerable genomic alterations.

“Understanding the unique nature of the HeLa genome is important for guiding future studies with these cells,” explained Brenda Andrews, Ph.D., editor-in-chief of G3. “This paper and the genomic data it includes provide an important resource for the scientific community, especially with the increasing number of studies that require genome sequence information for accurate design and interpretation.”

“We are very happy that G3 is able to publish these findings, and to make this dataset available to the scientific community,” says Adam Fagen, Ph.D., executive director of the Genetics Society of America. “The Lacks family has taken an important step towards ensuring HeLa cells continue to catalyze important advances in biomedical research.”

“Although NIH played an essential role in the discussions with the Lacks family about the use of HeLa cells, we all need to think about how we approach issues that arise as science moves forward, balancing privacy concerns with advances in research, and the ways policy can be updated to reflect these complexities,” added Dr. Fagen. “Everyone – including scientists, the public, policymakers, our health care system, and research funders – has a stake in the outcome.

Further commentary on this topic is provided in the following articles from the same issue of G3: Genes|Genomes|Genetics:

“Building Trust in 21st Century Genomics“, Michael J. Szego, Ph.D., M.HSc. (clinical ethicist), Janet A. Buchanan, Ph.D., and Stephen W. Scherer, Ph.D., all of The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.

“Policy Uncertainty, Sequencing and Cell Lines“, Timothy Caulfield, B.Sc., LL.B., LL.M., of Health Law Institute, Faculty of Law, University of Alberta, Edmonton, Alberta Canada; and Amy McGuire, J.D., Ph.D., of Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas.

“From Tissues to Genomes“, Bartha M. Knoppers, Ph.D., Director, Centre of Genomics and Policy at McGill University, Montreal, Canada.