Project Participation

1.Main Findings

HKGI will prepare for you a detailed report to aid in the clinical diagnosis and care for your family member’s or your condition. The Project team call this type of report a “Main Findings” report. It includes genetic variants that are classified as pathogenic/likely pathogenic according to the latest international guidelines.

2.Notification and Follow-Up

After the Project team evaluates the result, a doctor or genetic counsellor will explain the report to you. If necessary (for instance, further clinical investigations are required), the Project team will provide follow-up or refer you to the appropriate clinical services.

The Project team understands that participants would like to have results as soon as possible. To bring you accurate and reliable results to the best of our capabilities, the Project team will take the time that is necessary to analyse the data and interpret the results carefully and thoroughly. For these reasons, it is hard to set a timeline on completing the report. The Project team appreciates your patience and understanding on this matter.

Please note that while the report might provide useful insights concerning the medical conditions of you or your family members, it is possible that no new findings will be revealed through the analysis of your samples.

Clinical treatment of certain diseases, such as cancer, is time-sensitive. However, analysing and interpreting findings from “Whole Genome Sequencing” takes considerable time and resources, and the results may not have a decisive impact on clinical treatment. Unless the analysis definitively provides new directions, the clinical treatment plan will not change.

In addition to the Main Findings, genomic analysis may also identify vast numbers of other genetic variants, leading to a cornucopia of information related to genetic diseases and health risks. This additional information is called the “Additional Findings”, in which the identified variant is not related to the participant’s primary health concern but has adequate scientific evidence showing that there is a high risk in causing other diseases.

The Project team will only list those variants that have high pathogenic risks in the Additional Findings Report. HKGI will draw up a list of Additional Findings exclusively for this Project based on the latest international research results, regularly review the content of the list and update it when necessary.

Please click here to view the latest Additional Findings list.

1. Choosing Whether to Receive Additional Findings Report

You can choose whether to receive Additional Findings report.

• If you choose to receive it:
  • You may gain early insight of your potential health risks. Such information might enable you to follow up promptly about the pertinent disorders.
  • However, such results might also impact you psychologically.

• If you choose not to receive it:
  • The report will only indicate the Main Findings related to your family member’s or your condition.
  • Even if the analysis shows that you have potential health risk, you will not be informed.

2. Notification and Follow-Up

If HKGI finds that you have a variant that is on the Additional Findings list and you indicated that you wish to receive your Additional Findings report, the Project team will notify you and arrange an appointment for a doctor or genetic counsellor to explain the report to you.

If the report shows the need for further clinical investigations, the Project team will first discuss this with you and advise you accordingly. They will refer you to the appropriate clinics under the Hospital Authority if you agree to perform those clinical investigations.

Since the Project team will prioritise the analysis of the Main Findings, you may not be able to simultaneously receive the reports on Main Findings and the Additional Findings.

“Whole Genome Sequencing” studies yield an abundance of information. Based on global experiences in other genome projects, project participants may feel overwhelmed if bombarded with a large amount of complex information in a short period of time. HKGI is following the practices of other international genome projects by not listing the following findings in their research reports.

1.Variant of Uncertain Significance (VUS)

VUS refers to genetic variants that are found in the genome, but, with current knowledge of genetics, the Project team is not sure if this variant has any clinical impact on health.

Except for special circumstances, these VUS will be excluded from your report.

It is possible though, that with exponential advances in sequencing technology and genomic medicine, the team may gain new insights into how these VUS may be useful for understanding and treating diseases. Therefore, in the future, HKGI may find it useful to analyse your genome again. Once new results appear, the Project team will contact you and discuss with you the updates of the report.

2. Misattributed Parent-Child Relationship

Genetic tests might reveal the biological relationship between parents and children. However, as this is not the purpose of HKGP, the report will not include any such discoveries.

HKGP greatly values the privacy and the security of every participant’s data. The collection procedure for all personal and genomic data complies with the Hong Kong law, Personal Data (Privacy) Ordinance, Cap. 486, and all data will be kept strictly confidential.

1.Data Storage

HKGI will classify your personal information, medical records, and genomic data as confidential information, and properly store them in HKGI’s database located in Hong Kong.

2.Data Access

Only authorised designated Project team staff can access your medical records and genomic data for analysing your conditions and preparing reports. The personal data that can identify you will only be used for your clinical diagnosis and care.

You can also make a request to HKGI to access your genomic information.

HKGI will share only your de-identified data (data that does not include personal information) for research purpose. Qualified research organisations and researchers must seek approval from HKGI’s Institutional Review Board to view and analyse de-identified data on HKGI’s designated platform.

What is Institutional Review Board (also known as Research Ethics Committee)?

When a researcher or research institution applies to HKGI for the use of relevant data for research, the Institutional Review Board will examine and approve the study based on relevant guidelines, mainly predicated on ensuring the benefits to patients or to Hong Kong’s future medical development. Eligible research institutions and personnel (local and non-local) may include:

• Non-profit bodies (such as universities, research organisations); and
• Commercial enterprises (such as pharmaceutical manufacturers).

What is “de-identified data”?

“De-identified data” is data that does not contain any of your personal information (such as name, date of birth, identification document number, hospital number, and other personal details), which will have been removed by HKGI and replaced with an identification code.

To give impetus to the future development of genomic medicine in Hong Kong, HKGI will collaborate with local and international medical and scientific research institutions.

Under no circumstance will HKGI disclose your personal information to any researcher without your consent. Your “de-identified” data will only be shared with:

Approved local and international research institutions and researchers

• Eligible research institutions and relevant researchers must obtain approval from HKGI’s Institutional Review Board before using your “de-identified” data. If your health care providers/clinicians wish to use your data for their own scientific and medical research, they must also apply through the Institutional Review Board.

International scientific databases

• Some international scientific databases will collect “de-identified” data from different research projects and organisations to facilitate international scientific and medical research. Each database has its own rigorous application procedures, and researchers must seek approval to use the relevant de-identified data.
• Before sharing the data, HKGI will carefully check and review the data security and safety policy of the relevant scientific databases.

Your de-identified data will be used for various scientific and medical research related to other diseases, not only to the disease you have.

Even if researchers make new and important discoveries about your disease or condition, HKGI will not reveal your personal information to researchers without your consent. If the researchers wish to contact the participants, they must notify HKGI in compliance with relevant rules and procedures. HKGI will evaluate their request and contact you to ask if you are willing to share your contact information with the researchers. Only when there is a clinical need, for instance, when new research insights might lead to improved treatment plan for the participant, will the Project team grant approval for designated personnel to proceed.

“Whole Genome Sequencing” can help clinicians diagnose, understand and treat diseases, and your medical records are a crucial and accurate source of information about your medical condition. To enable the Project team to carry out analysis in understanding the relationship between genome and disease, they have to refer to both your health condition and genomic data.

HKGP is a long-term project, and the health conditions of participants will change over time. These changes may bring new research insights, so the Project team needs participants’ medical records at different time points for sustained analysis.

After obtaining your consent, the Project team will, when necessary, access and analyse your medical records in the Hospital Authority and Clinical Genetic Service, Department of Health, including:

• Records of hospitalisation or clinic visits;
• Clinical records and laboratory test results; and
• Radiology and imaging records such as magnetic resonance imaging (MRI) scans, X-rays or clinical photos, etc.

Moreover, if necessary, the Project team will contact you to collect more information, such as your health records kept at other medical institutions. The Project team will explain and invite you to sign extra consent forms if needed. You may decide at that time if you wish to provide additional Information.

If you withdraw from the Project, the Project team will stop accessing your medical records.

After providing samples, HKGI will extract genetic material from them and carry out “Whole Genome Sequencing” to obtain genomic data.

Your samples will be stored in HKGI’s biobank at the Hong Kong Science Park. HKGI will abide by strict guidelines and management processes to handle the samples. Your samples will be stored for seven years after the completion of the Project. If a longer duration is required to complete the Project, HKGI will seek endorsement from relevant research ethics committees.

In addition, when necessary, some samples may be kept in the Partnering Centre’s laboratory for clinical use.

If you are a patient:

• Blood sample

We will need to obtain a blood sample from you (5-10 ml for adults, 3-5 ml for children).

• Saliva sample

           Depending on your medical condition, we may ask you to provide 3-5 ml of saliva.

• Buccal swab sample

Depending on your medical condition, we may ask you to provide 2-4 buccal swabs. The collection may take a few minutes.

• Body tissue sample

For body tissue samples, we will collect them during surgery according to your clinical needs or take them from excised tissues after the surgery. You will not need to undergo additional surgery for us to collect tissue samples for HKGP.

If you are a patient’s family member:

• Blood sample

We will need you to provide a blood sample (5-10 ml for adults).

Should specific circumstances arise, such as needing additional amounts and/or alternative types of samples, the Project team will use leftover portions of samples you have previously submitted to the Hospital Authority or Clinical Genetic Service, Department of Health for more precise analysis.

The Project team will contact you again if they need additional samples or information from you. You may consider and decide on each new request independently.

Your rights:

• Providing samples is purely voluntary. You may decide after careful consideration of your situation and when all information is provided by the Project team.
• When you agree to provide samples, you are authorising and agreeing HKGI to use your samples for HKGP.